Classic Presentations Flashcards

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1
Q

Child uses arms to stand up from squat

A

Gowers Sign

Duchenne Muscular Dystrophy

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2
Q

Bone Pain
Bone enlargement
Arthritis

A

Paget disease of bone = increased osteoblastic AND osteoclastic activity

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3
Q

Abdominal Pain
Diarrhea
Leukocytosis
Recent antibiotic use

A
C. Diff infection
Gram + Rod
Spore forming
Obligate Anerobe
Pseudomembranous Colitis
Tx = Vancomycin or Metronidazole
Toxin A - binds brush border of gut
Toxin B- Cytoskeleton disruption via actin depolymerization

Diagnosis = PCR or toxin

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4
Q

Cafe-au-lait spots (unilateral)
Polyostotic fibrous dysplasia
Precocious puberty
Multiple Endocrine Neoplasias

A

McCune-Albright Syndrome = mosaic G-protein signaling mutation

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5
Q

Bilateral hilar adenopathy
Uveitis
Restrictive Lung Disease

A

Sarcoidosis

Non-caseating granulomas

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6
Q

Back pain
Fever
Night Sweats

A

Pott Disease

Vertebral TB

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7
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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8
Q

Chest pain
Pericardial effusion/friction rub
Persistent Fever
Post- MI

A

Dressler Syndrome = Autoimmune-mediated post MI fibrinous pericarditis

2-12 weeks after acute episode

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9
Q

Chorea
Dementia
Caudate Degeneration

A

Huntington Disease = autosomal dominant CAG repeat expansion

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10
Q

Anterior “drawer sign”

A

Anterior crucitate ligament injury

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11
Q

Chest pain on exertion

A

Angina
Stable = with moderate exertion
Unstable = with minimal exertion or at rest

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12
Q

Black Eschar on face of patient with diabetic ketoacidosis

A
Mucor or Rhizopus fungal infection
Opportunistic 
-proliferate in blood vessel walls
-Penetrate cribriform plate
-Enter brain

**frontal lobe abscess, cavernous sinus thrombosis

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13
Q

Arachnodactylyl
Lens dislocation
Aortic Dissection
Hyperflexible Joints

A

Marfan Syndrome = fibrillin defect

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14
Q

Abdominal Pain
Ascites
Hepatomegaly

A
Budd-Chiari Syndrome
Thromobosis or compression of hepatic veins
Centrilobular congestion and necrosis
ABSENCE OF JVD
NUTMEG LIVER
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15
Q

Butterfly facial rash

Raynaud phenomenon in young female

A

SLE

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16
Q

Chorioretinitis
Hydrocephalus
Intracranial Calcifications

A

Congenital Toxoplasmosis

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17
Q
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Cutaneous neurofibromas
Pheochromocytomas
Optic gliomas
A

NFT Type 1

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18
Q

Bluish line on gingia

A

Burton line = Lead poisoning

  • Lead inhibits ferrochelatase and ALA dehydratase
  • Decreased heme synthesis and increased protoporphyrin

**RBC’s basophilic stippling

TX: DIMERCAPROL and EDTA and SUCCIMER

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19
Q

Calf Pseudohypertrophy

A

Muscular dystrophy

Most commonly Duchenne = x-linked recessive frameshift mutation of dystrophin gene

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20
Q

“Cherry Red” Spots on macula

A

Tay Sachs = ganglioside accumulation

  • hexosaminidiase A
  • NO hepatosplenomegaly

Niemann-Pick Disease = sphingomyelin accumulation

  • Sphingomyelinase
  • Hepatosplenomegaly, foam cells

Central Retinal Artery Occlusion

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21
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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22
Q

Achilles tendon xanthoma

MI before age 20

A

Familial hypercholesteroliemia
Autosomal Dominant
Absent or defective LDL receptor
Accelerated Atherosclerosis

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23
Q

Chest pain with ST depressions on EKG

A
Unstabple angina (-troponins) OR
NSTEMI (+troponins)
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24
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen Syndrome

*caused by N. Meningititis

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25
Q

Bounding pulses
Diastolic heart murmur
Head Bobbing

A

Aortic Regurgitation

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26
Q

Bilateral acoustic schwannomas

A

NFT Type 2

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27
Q

Blue Sclera

A

Osteogenesis Imperfecta = Type 1 collagen defect

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28
Q

Cervical Lympyadenopathy
Desquamating rash
Corornary Aneurysms
Red conjunctivac and tongue

A

Kawasaki disease - treat with IVIG and aspirin

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29
Q

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

A

“Slapped Cheeks”
Erythema infectiosum
5th Disease
Parvovirus B-19

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30
Q

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

A

McArdle Disease (skeletal muscle glycogen phsophorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF, may unitaleral or bilateral)

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33
Q

Continuous “machine like” heart murmur

A

PDA

Close with indomethacin
Keep open with PGE

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism)

Pretibial in graves disease

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

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36
Q

Dark purple skin/mouth nodules in a patient with AIDs

A

Kaposi Sarcoma, associated with HHV-8

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37
Q

Deep, labored breathing/ hyperventiliation

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (Niacin B3 deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine B1 deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasturella multocida (cellulitis at occulation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren Syndrome

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42
Q

Dysphagia (esophageal webs)
Glossitis
Iron Deficiency Anemia

A

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

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43
Q

Elastic Skin
Hypermobility of joints
Increased bleeding tendency

A

Ehlers-Danlos syndrome

Type 5 collagen defect, Type 3 collagen defect seen in vascular type

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo
Tinnitus
Hearing loss

A

Meniere Disease

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46
Q

Erythroderma
Lymphadenopathy
Hepatosplenomegaly
Atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma)

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47
Q

Facial muscle spasm on tapping

A

Chvostek sign = hypocalcemia

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48
Q

Fat
Female
Forty
Fertile

A

Cholelithiasis (gallstones)

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49
Q

Fever
Chills
Headache
Myalgia following antibiotic treatment for syphillis

A

jarish-herxheimer reaction = rapid lysis of spirochetes results in endotoxin release

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50
Q
Fever
Cough
Conjunctivitis
Coryza
Diffuse rash
A

Measles

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51
Q

Fever
Nightsweats
Weight loss

A

B symptoms of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvatures

A

Peyronie Disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-Fleischer rings = cooper accumulation from WIlson disease

54
Q

Gout
Intellectual disability
Self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome = HGPRT deficiency

X-linked recessive

55
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)

56
Q
Hepatosplenomegaly
Pancytopenia
Osteoporosis
Aseptic necrosis of femur
Bone Crises
A

Gaucher Disease = glucocerebrosidase deficiency

57
Q

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport Syndrome

Mutation in collage IV

58
Q

Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility

A

Kluver-Bucy syndrome

Bilateral amygdala lesion

59
Q

Hyperreflexia
Hypertonia
Babinskin sign present

A

UMN damage

60
Q

Hyporeflexia
Hypotonia
Atrophy
Fasciculations

A

LMN damage

61
Q

Hypoxemia
Polycythemia
Hypercapnia

A

“Blue Bloater”

Chronic bronchitis = hyperplasia of mucous cells

62
Q

Indurated, ulcerated genital lesion

A

Nonpain ful = chancre, primary syphillus

Painful with exudate = H. Ducreyi

63
Q

Infant with cherry red spot on macula
Hepatosplenomegaly
Neurodegeration

A

Neimann-Pick disease (genetic sphingomyelinase deficiency)

64
Q

Infant with clef lip/palate microcephaly or holoprosencephaly
POlydactylly
Cutis Aplasia

A

Patau Sydrome (trisomy 13)

65
Q

Infant with hypoglycemia, heptomegaly

A

Cori disease or Von GIerke disease

66
Q

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

A

Edwards syndrome (Trisomoy 18)

67
Q

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier sign = distal obstruction of biliary tree)

68
Q

Large rash with bull’s eye appearance

A

Erythema migrans from Ixodes tick bit (lyme disease, borrelia)

69
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

70
Q

Male child
Recurrent infection
No mature B cells

A

Bruton Disease (X-linked agammaglobulinemia)

71
Q

Mucosal bleeding and prolonged bleeding time

A

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

72
Q

Muffled heart sounds
Distended neck veins
Hypotension

A

Beck triad of cardiac tamponade

73
Q

Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/Supernumerary teeth

A

Gardner Syndrome (subtype of FAP)

74
Q

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)

75
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury) = waiter’s tip

76
Q

No lactation postpartum
Absent menstruation
Cold intolerance

A

Sheehan Syndrome

77
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia

A

Multiple Sclerosis

78
Q

Painful blue fingers/toes

Hemolytic Anemia

A

Cold agglutinin disease

79
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

80
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes
Infective endocarditis
Immune complex deposition

81
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions
Infective endocarditis
Septic Emboli/microabscesses

82
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

83
Q

Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
hematuria

A

HSP = IgA vasculitis affecting skin and kidneys

84
Q

Pancreatic, Pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

85
Q

Periorbital and/or peripheral edema
Proteinuria
Hypoabuminemia
Hypercholesterolemia

A

Nephrotic Syndrome

86
Q

Pink complexion
Dyspnea
Hyperventilation

A

Pink puffer = emphysema

87
Q
Polyuria
Rental tubular acidosis type II
Growth Failure
Electrolyte imbalances
Hypophosphatemic rickets
A

Fanconi Syndrome = multiple combined dysfunction of proximal convoluted tubule

88
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen Planus

89
Q

Ptosis
Miosis
Anhidrosis

A

Horner Syndrome

90
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil

91
Q

Rapidly progressive limb weakness that ascends following GI/URI

A

Guillain-Barre Syndrome = acute inflammatory demyelinating plyradiculopathy subtype

92
Q

Rash on palms and soles

A

Coxsackie A
Secondary Syphillis
RMSF

93
Q

Recurrent cold abscesses
Unusual eczema
High serum IgE

A

Hyper IgE syndrome (job syndrome, neutrophil chemotaxis abnormality)

94
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

95
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia in adults

Intussusception in kids

96
Q

Red, itchy, swollen, nipple

A

Paget Diseae of breast (sign of underlying neoplasm)

97
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

98
Q

Renal Cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma

A

Von Vippel Lindau disease (dominant tummor suppressor gene mutation)

99
Q
Resting tremor
Rigidity
Akinesia
Postural instability
Shuffling gate
A

Parkinson disease = loss of dominergic neruons in substantia nigra pars compacta

100
Q

Retinal hemorrhages with pale centers

A

Roth spots = bacterial endocarditis

101
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome = congential unconjugated hyperbilirubinemia

102
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing Sign = acute appendicitis

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney Sign= acute appendicits

104
Q
Short stature
Cafe au lait spots
Thumb/radial defects
Increased incidence of tumors/leukemia
Aplastic Anemia
A

Fanconia Anemia

Genetic loss of DNA crosslink repair

Often progresses to AML

105
Q

Single palmar crease

A

Down syndrome

106
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
INfertility

A

Kartagener Syndrome = dynein arm defect affecting cilia

107
Q

Skin hyperpigmentation
Hypotension
Fatigue

A

Primary adrenocortical insufficiencys (Addison’s Disease) causes increased ACTH and MSH production

108
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (x-linked missense mutaiton in dystrophin)

Less severe than Duchenne

109
Q

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

A

Koplik Spots (measles, rubeola virus)

110
Q

Smooth, moist, painless, wart like white lesions on genitals

A

Condylomata late (secondary syphilis)

111
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

112
Q

Strawberry Tongue

A

Kawasaki Disease

113
Q
Streak ovaries
Congential herat disease
Horsehoe skideny
Cystic hygroma at birth
Short stature
Webbed neck
Lymphedema
A

Turner Syndrome (XO)

114
Q

Sudden swollen/painful big toe joint

Tophi

A

Gout/podagra (hyperuricemia)

115
Q

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

A

Scurvy (Vit C deficiencyc, can’t hydroxylate proline/lysine for collagen synthesis)

116
Q

Swollen, hard, painful finger joins

A

Osteoarthritis
Bouchards nodes = PIP
Heberden nodes = DIP

117
Q

Systolic ejection murmur (cresendo-decrescendo)

A

Aortic Stenosis

118
Q
Telangiectasias
Recurrent epistaxis
Skin discoloration
Arteriovenous malformations
GI bleeding
Hematuria
A

Osler-Weber-Rendu Syndrome

119
Q

Thyroid
Parathyroid
Pheochromocytoma

A

MEN 2 A (Autosomal dominant RET mutation)

120
Q

Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutation)

121
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

122
Q

Unilateral facial dropping involving forehead

A

LMN facial nerve palsy

123
Q

Urethritis
Conjunctivits
Arthritis in male

A

Reactive arthritis associated with HLA-B27

124
Q

Vascular brithmark (port wine stain) on the face

A

Nevus Flammeus (benign, but associated with STurge-Weber syndrome)

125
Q

Vomiting blood following gastroespohageal lacerations

A

Mallory-Weiss Syndrome (alcoholic and bulimic patients)

126
Q
Weight loss
Diarrhea
Arthritis
Fever
Adenopathy
A

Whipple Disease (T. whipplei)

127
Q

Worst headache of my life

A

Subarachnoid Hemorrhage