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Classic Presentations Flashcards

1
Q

Abdominal pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome

posthepatic venous thrombosis

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2
Q

Abdominal pain
Diarrhea
Leukocytosis
Recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon 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 dislocation (upward)
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 diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A 
Osteogenesis imperfecta 
(type I 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

A

Paget disease of bone

increase osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Wide pulse pressure
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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17
Q

“Butterfly” facial rash

Raynaud phenomenon in a young female

A

Systemic lupus erythematous

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18
Q 
Café-au-lait spots
Lisch nodules (iris hemartoma)
Cutaneous neurofibromas 
Pheochromocytomas
Optic gliomas
A

Neurofibromatosis type 1

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19
Q

Café-au-lait spots (unilateral)
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities

A

McCune-Albright syndrome

mosaic G-protein signaling mutation

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy

most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene

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21
Q 
Cervical lymphadenopathy 
Desquamating rash
Coronary aneurysm 
Red conjunctivae and tongue
Hand-foot changes
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
Niemann-Pick (sphingomyelin accumulation) or
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 weeks to several months 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

Duchenne muscular dystrophy

Gowers sign

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27
Q

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

A

Erythema infectiosum/fifth disease

“slapped cheeks” appearance, caused by parvovirus B19

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28
Q

Chorea
Dementia
Caudate degeneration

A 
Huntington disease 
(autosomal dominant CAG repeat expansion)
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29
Q

Chorioretinitis
Hydrocephalus
Intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase 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 ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

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33
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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35
Q

Cutaneous flushing
Diarrhea
Bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, increase 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/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

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38
Q

Dermatitis
Dementia
Diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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39
Q

Dilated cardiomyopathy
Edema
Alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficency)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes
Dry mouth
Arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

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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 V collagen defect, type III collagen defect seen in vascular subtype of ED)

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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) or 
Sézary syndrome (mycosis fungoides + malignant T cells in blood)
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47
Q

Facial muscle spasm upon 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 syphilis

A

Jarisch-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
Night sweats
Weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

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, hyper pigmentation of mouth/feet/hands/genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)

56
Q 
Hepatosplenomegal
Pancytopenia
Osteoporosis
Aseptic necrosis of femoral head
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

Klüver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia
Hypertonia
Babinski sign present

A

UMN damage

60
Q

Hyporeflexia
Hypotonia
Atrophy
Fasciculations

A

LMN damage

61
Q

Hypoxemia
Polycythemia
Hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1ry syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

63
Q

Infant with cleft lip/palate
Microcephaly or holoprosencephaly
Polydactyly
Cutis aplasia

A

Patau syndrome (trisomy 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
Structural heart defect

A

Edwards syndrome (trisomy 18)

66
Q

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant 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

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 a-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

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus
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 or stress

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

80
Q

Painless erythematous lesions on palms and soles

A

Laneway 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-Schölein purpurn (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 (>3.5 g/day)
Hypoalbuminemia
Hypercholesterolemia

A

Nephrotic syndrome

85
Q

Pink complexion
Dyspnea
Hyperventilation

A

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [a1-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 (6P’s)

A

Lichen planus

88
Q

Ptosis
Miosis
Anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

90
Q

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

A

Guillan-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

Rash on palms and soles

A

Coxsackie A, 2ry syphilis, Rocky Mountain spotted fever

92
Q

Recurrent cold (noninflamed) abscesses
Unusual eczema
High serum IgE

A

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

93
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

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 mutation)

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-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

101
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

103
Q 
Short stature
Café 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 (dynein arm defect affecting cilia)

106
Q

Skin hyperpigmentation
Hypotension
Fatigue

A

1ry adrenocortical insufficiency (eg Addison disease) causes increased ACTH and increased a-MSH production)

107
Q

Slow, progressive muscle weakness in boys

A

Becker 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 (2ry syphilis)

110
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

111
Q

“Strawberry tongue”

A

Scarlet fever

Kawasaki disease

112
Q 
Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth 
Short stature
Webbed neck
Lymphedema
A

Turner syndrome (45, XO)

113
Q

Sudden swollen/painful big toe 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 joints

A

Osteoarthritis (osteophytes on PIP [Bouchard 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

Osler-Weber-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 mutation)

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

Rapid Review (4 decks)

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