Clinical Presentation Flashcards

2
Q

Cutaneous/Dermal Edema due to CT deposition

A

Myxedema (caused by hypothyroidism, Grave’s Disease [periorbital])

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3
Q

Abdominal Pain, Ascites, Hepatomegaly

A

Budd Chiari syndrome (posthepatic venous thrombosis)

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4
Q

Achilles Tendon Xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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5
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse Fridrichesin syndrome (meningoccemia)

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6
Q

Arachnodactyly, Lens dislocation, Aortic Dissection, Hyperflexible Joints

A

Marfan’s Syndrome (fibrillin defect)

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7
Q

Athlete w/Polycythemia

A

EPO injection

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8
Q

Back Pain, Fever, Night Sweats, Weight Loss

A

Pott’s Disease (vertebral TB)

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9
Q

Bilateral Hilar Adenopathy. Uveitis

A

Sarcoidosis (noncaseating granuloma)

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10
Q

Blue Sclera

A

Osteogenesis Imperfecta (collagen defect)

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11
Q

Bluish Line on Gingiva

A

Burton’s line (lead poisoning)

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12
Q

Bone Pain, Bone Enlargement, Arthritis

A

Paget’s Disease of Bone (increase osteoblastic and osteoclastic activity)

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13
Q

Bounding Pulses, Diastolic Heart Murmur, Head Bobbing

A

Aortic Regurgitation

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14
Q

“Butterfly” facial rash and Raynaud’s phenomenon in a young female

A

Systemic Lupus Erythematosus

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15
Q

Cafe au lait spots, Lisch Nodules (iris hamartoma)

A

Neurofibromatosis Type I (+pheochromocytoma, optic gliomas); Neurofibromatosis Type II (+bilateral acoustic neuromas)

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16
Q

Cafe au lait spots, Polyostotic Fibrous Dysplasia, Precocious Puberty

A

McCune Albright Syndrome (mosaic G protein signaling mutation)

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17
Q

Calf Pseudohypertrophy

A

Muscular Dystrophy (most commonly Duchenne’s); X-Linked recessive deletion of dystrophin gene

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18
Q

Cherry Red Spot on Macula

A

Tay Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), Central Retinal Artery occlusion

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19
Q

Chest Pain on Exertion

A

Angina (stable: moderate exertion; unstable: minimal exertion)

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20
Q

Chest Pain, Pericardial Effusion/friction rub, Persistent fever following MI

A

Dressler’s Syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 weels after acute episode)

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21
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne Muscular Dystrophy)

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22
Q

Child w/fever develops red rash on face that spreads to body

A

“Slapped Cheeks” (erythema infetiosum/5th disease: parvovirus B19)

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23
Q

Chorea, Dementia, Caudate Degeneration

A

Huntington’s Disease (AD CAG repeat expansion)

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24
Q

Chronic Exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle’s Disease (muscle glycogen phosphorylase deficiency)

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25
Q

Cold intolerance

A

Hypothyroidism

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26
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear Ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]

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27
Q

Continual “machinery” heart murmur

A

PDA (close w/Indomethacin; open w/Misoprostol)

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28
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [gay men]: associated w/HHV-8)

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmal’s breathing (DKA)

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30
Q

Dermatitis, Dementia, Diarrhea

A

Pellegra (Niacin [vitamin B3] deficiency)

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31
Q

Dilated Cardiomyopathy, Edema, Polyneuropathy

A

Wet Beriberi (thiamine [vitamin B1 deficiency])

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32
Q

Dog or Cat bite resulting in infection

A

Pasteurella Multocida (cellulitis at inoculation site)

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33
Q

Dry eyes, dry mouth, arthritis

A

Sjorgen’s Syndrome (Autoimmune destruction of exocrine glands)

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34
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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35
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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37
Q

Erythroderma, Lymphadenopathy, Hepatosplenomegaly, Atypical T cells

A

Sezary Syndrome (cutaneous T cell lymphoma) or mycoses fungoides

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38
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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39
Q

Fat

Female

Forty

Fertile

A

Acute Cholelithiasis (bile duct blockage)

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40
Q

Fever, chills, H/A, myalgia following antibiotic treatment for syphilis

A

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

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41
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Mealers (morbillivirus)

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42
Q

Fever, Night Sweats, Weight Loss

A

B symptoms (lymphoma)

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43
Q

Gout, Mental retardation, self mutilating behavior in boy

A

Lesch-Nyhan Syndrome (HGPRT deficiency, X-Linked Recessive)

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44
Q

Green yellow rings around peripheral cornea

A

Kayser Flesicher rings (copper accumulations from Wilson’s Disease)

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45
Q

Hamartomatous GI polyps

Hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (genetic benign polypsis can cause bowel obstruction; increase cancer risk)

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46
Q

Hepatosplenomegaly

Osteoporosis

Neurologic Sx

A

Gaucher’s Disease

(glucocerebrosidase deficiency)

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47
Q

Hereditary Nephritis

Sensorineural Hearing Loss

Cataracts

A

Alport Syndrome

(mutation in alpha chain of collagen IV)

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48
Q

Hypercoagulability (leading to migrating DVTs and Vasculitis)

A

Trosseau’s Sign (adenocarcinoma of pancreas or lung)

49
Q

Hyperphagia

Hypersexuality

Hyperorality

Hyperdocility

A

Kluver-Bucy Syndrome

(bilateral amygdala lesion)

50
Q

Hyperreflexia

Hypertonia

Positive Babinski sign

A

UMN damage

51
Q

HTN

Hypokalemia

Metabolic Alkalosis

A

Conn’s Syndrome

52
Q

Hyporeflexia

Hypotonia

Atrophy

A

LMN damage

53
Q

Hypoxemia

Polycythemia

Hypercapnia

A

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

54
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (Primary Syphilis, Treponema pallidum)

Painful w/exudate: chancroid (Haemophilus ducreyi)

55
Q

Infant w/failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56
Q

Infant w/hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease

(debranching enzyme deficiency)

57
Q

Infant w/microcephaly, rocker bottom feet, clenched hands, and structural heart defect

A

Edward’s syndrome (trisomy 18)

58
Q

Keratin pearls on skin biopsy

A

Squamous cell carcinoma

59
Q

Large rash w/bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite

(Lyme Disease: Borrelia)

60
Q

Lucid interval after traumatic brain injury TBI

A

Epidural hematoma

(middle meningeal artery rupture)

61
Q

Male child

Recurrent Infections

No mature B cells

A

Bruton’s Disease

(X linked ammaglobulinemia)

62
Q

Mucosal Bleeding and Prolonged Bleeding Time

A

Glanzmann’s Thrombasthenia

(defcet in platelet aggregation due to lack of GpIIb/IIIa)

63
Q

Multiple colon polyps

osteomas/soft tissue tumors

impacted/supernumerary teeth

A

Gardner’s syndrome

(subtype FAP)

64
Q

Myopathy (Infantile hypertrophic cardiomyopathy)

Exercise Intolerance

A

Pompe’s Disease

(lysosomal alpha 1,4 glucosidase deficiency)

65
Q

Necrotizing Vasculitis (lungs)

and Necrotizing Glomerulonephritis

A

Wegener’s (C-ANCA +) and

Goodpasture’s Syndromes (anti basement membrane ab’s)

66
Q

Neonate w/arm paralysis following difficult birth

A

Erb-DUchenne palsy

(superior trunk C5-6 brachial plexus injury: waiter’s tip)

67
Q

No lactation postpartum

Absent mentruation

Cold Intolerance

A

Sheehan’s Syndrome

(pituitary infarction)

68
Q

Nystagmus

Intention tremor

Scanning speech

Bilateral Internuclear ophthalmoplegia

A

Multiple Sclerosis

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations

(central apnea in CHF or increased intracranial pressure)

70
Q

Painful blue fingers/toes

Hemolytic Anemia

A

Cold Agglutinin Disease

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

71
Q

Painful, pale, cold fingers/toes

A

Raynaud’s Syndrome

(vasospasm in extremities)

72
Q

Painful, raised red lesions on palms and soles

A

Osler’s node

(infective endocarditis)

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions

(infective endocarditis)

74
Q

Painless Jaundice

A

Cancer of the pancreatic head obstructing bile duct

75
Q

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

A

Henoch-Schonlein Purpura

(IgA vasculitis affecting skin and kidneys)

76
Q

Pancreatic

Pituitary

Parathyroid tumors

A

MEN 1 (AD)

77
Q

Pink complexion

Dyspnea

Hyperventilation

A

“Pink Puffer”

(emphysema: centroacinar [smoking]; panacinar: alpha 1 antitrypsin deficiency)

78
Q

Polyuria

Acidosis

Growth Failure

Electrolyte Imbalances

A

Fanconi’s syndrome

(proximal tubular reabsorption defect)

79
Q

Positive Anterior Drawer Sign

A

Anterior Cruciate Ligament ACL injury

80
Q

Ptosis

Miosis

Anhidrosis

A

Horner’s Syndrome

(sympathetic chain lesion)

81
Q

Pupil accomodates but DN react

A

Argyll Robertson pupil

(neurosyphilis)

82
Q

Rapidly progressive leg weakness that ascends

(following GI/URI)

A

Guillan-Barre syndrome

(autoimmune acute inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie A

Secondary Syphilis

Rocky Mountain Spotted Fever

84
Q

Recurrent Colds

Unusual Eczema

High Serum IgE

A

Hyper IgE Syndrome

(Job’s syndrome: neutrophil chemotaxis abnormality)

85
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s Disease of the breast

(representing underluing neoplsm)

87
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

88
Q

Renal Cell Carcinoma (bilateral)

Hemangioblastomas

Angiomatosis

Pheochromocytoma

A

vHL Disease

(dominant tumor suppressor gene mutation)

89
Q

Resting tremor

Rigidity

Akinesia

Postural Instability

A

Parkinson’s Disease

(nigostriatal DA depletion)

90
Q

Retinal Hemorrhages w/pale centers

A

Roth’s spots (bacterial endocarditis)

91
Q

Severe Jaundice in Neonate

A

Crigler-Najjar Syndrome

(congenital unconjugated hyperbilirubinemia)

92
Q

Severe RLQ pain w/rebound tenderness

A

McBurney’s sign (appendicitis)

93
Q

Short stature

Increased incidence of tumors/leukemia

Aplastic Anemia

A

Fanconi’s Anemia

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

94
Q

Single Palm Crease

A

Simian Crease

(Down Syndrome)

95
Q

Situs Inversus

Chronic Sinusitis

Bronchiectasis

Infertility

A

Kartagener’s Syndrome

(dynein arm defect affecting cilia)

96
Q

Skin Hyperpigmentation

A

Addison’s Disease

(Primary Adrenocortical Insufficiency causes increased ACTH and alpha MSH production)

97
Q

Slow, progressive muscle weakness in boys

A

Becker’s Muscular Dystrophy

(X linked missense mutation in dystrophin;

less severe than Duchenne’s)

98
Q

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

A

Koplik Spots

(measle’s; rubeola virus)

99
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata Lata

(Secondary syphilis)

100
Q

Splinter Hemorrhages in fingernails

A

Bacterial Endocarditis

101
Q

“Strawberry Tongue”

A

Scarlet Fever

Kawasaki Disease

Toxic shock syndrome

102
Q

Steak Ovaries

Congenital Heart Disease

Horseshoe Kidney

Cystic Hygroma at birth

A

Turner Syndrome

(45X,O, short stature, webbed neck, lymphedema)

103
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/Podagra

(hyperuricemia)

104
Q

Swollen Gums

Mucous Bleeding

Poor Wound Healing

Spots on Skin

A

Scurvy

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

105
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

(osteophytes on PIP [Buchard’s nodes],

DIP [Heberden’s nodes])

106
Q

Systolic Ejection Murmur

(crescendo-decrescendo)

A

Aortic Valve Stenosis

107
Q

Thyroid and Parathyroid tumors

Pheochromocytoma

A

MEN 2A

(AD ret mutation)

108
Q

Thyroid tumors

Pheochromocytoma

Ganglioneuromatosi

A

MEN 2B (AD ret mutation)

109
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign

(UMN lesion)

110
Q

Unilateral facial drooping involving forehead

A

Bell’s Palsy

(LMN CN VII palsy)

111
Q

Urethritis

Conjunctivitis

Arthritis in Male

A

Reactive arthritis associated w/HLA-B27

112
Q

Vascular birthmark (port wine stain)

A

Hemangioma

(benign, but associated w/Sturge-Weber syndrome)

113
Q

Vomiting blood following esophagogastric lacerations

A

Mallory Weiss Syndrome

(alcoholic and bulimic patients)

114
Q

“Waxy” casts w/very low urine flow

A

Chronic end stage renal disease

115
Q

WBC casts in urine

A

Acute Pyelonephritis

116
Q

Weight Loss

Diarrhea

Arthritis

Fever

Adenopathy

A

Whipple’s Disease

(Tropherma whippelli)

117
Q

“Worst H/A of my life”

A

Subarachnoid hemorrhage