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Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly, no JVD

A

Budd-Chiari Syndrome

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use (clindamycin)

A

C. Diff

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3
Q

Achilles tendon Xanthoma

A

Familial hypercholesterolemia (Decreased LDL receptor)

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4
Q

Adrenal Hemorrhage, hyptension, DIC

A

Waterhouse-Friedrichsen syndrome secondary to Menigicococcal meningitis

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5
Q

Anaphylaxis follow blood transfusion

A

IgA deficiency

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6
Q

Anterior drawer sign

A

ACL injury

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7
Q

Arachnodactyly, upward lens dislocation, aortic dissection, hyperflexible joint

A

Marfan Syndrome (Fibrillin defect)

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8
Q

Athlete with polycythemia

A

Exogenous EPO use

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9
Q

Back pain, fever, night sweats, possible TB history

A

Potts Disease

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10
Q

Bilateral acoustic schwannomas

A

NF2

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11
Q

Bilateral Hilar adenopathy, uveitis

A

Sarcoidosis (non caseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus (Non septate wide branching hyphae)

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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

Lead poisoning (Burton line)

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15
Q

Bone pain, bone enlargement, arthritis

A

Pagets Disease of Bone (Increased osteoblastic and osteoclastic activity, ratio depends on phase)

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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

Malar rash and raynauds in young female

A

SLE

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18
Q

Cafe-au-lait spots, lisch nodules (hamartomas of iris), cutaneuous neurofibromas, pheochromocytoma, optic glioma

A

NF1

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19
Q

Unilateral cafe-au-lait spots, 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

Duchennes muscular dystrophy (Frameshift mutation leading to non-functional dystrophin gene)

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes.

A

Kawasaki’s disease (treat with IVIG and aspirin, may also present as angina like syndrome in young asian)

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22
Q

“Cherry red spots on macula”

A

Niemann-Pick (hepatosplenomegaly) or Tay Sacks (no hepatosplenomegaly), may also be central retinal artery occlusion

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23
Q

Chest pain on exertion

A

Angina (Stable if relieved with 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 and ST depression on EKG

A

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

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26
Q

Child uses arm to stand up from squatting

A

Duchennes Muscular Dystrophy (Gowers Sign)

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27
Q

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

A

Parvovirus B19 (also called erythema infectiosum or 5th disease)

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28
Q

Chorea, dementia, caudate generation

A

Huntingtons Diseas (CAG repeats)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

Chronic exercise intolerance, myalgias, 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)

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33
Q

Continuous “machine like” murmur

A

Persistent Ductus Arteriosus (close with indomethacin, keep open in RtoL shunt with PGE2)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (hypothyroidism or graves disease)

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid Syndrome (right sided cardiac valve lesions, increased 5-hiaa, GI carcinoids dont present with symptoms until metastasized beyond liver)

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36
Q

Dark purple skin/mouth nodules in patient with AIDS

A

Kaposi Sarcoma (HHV-8)

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37
Q

Deep labored breathing, hyperventilation

A

Kussmaul Respirations (DKA)

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38
Q

Dermatitis, Dementia, Diarrhea

A

Pellagra (Niacin deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism, malnutrition

A

Wet Beri Beri (Thiamine deficiency)

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40
Q

Dog or Cat Bite resulting in infection

A

Pastuerella Multicida (cellulitis at inoculation site, treat with augmentin)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren Syndrome (autoimmune destruction of endocrine glands, anti ro/la antibodies present)

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42
Q

Dysphagia (web), glossitis, iron deficiency anemia

A

Plummer Vinson syndrome (may progress to esophogeal SCC)

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43
Q

Elastic skin, hypermobility of joints, increased bleeding

A

Ehlers-Danlos (Type V collagen defect classically, Type III in vascular type)

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44
Q

Enlarge, hard left supraclivicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Menieres Disease (Increased fluid in vestibular space)

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46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungiodes (cutaneous T cell lymphoma) or Sezary syndrome (Mycosis fungiodes plus malignant T cells in the blood)

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47
Q

Facial muscle spasm upon tapping

A

Chvosteks 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

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

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50
Q

Fever, cough, conjunctivitus, coryza, diffuse rash

A

Measles

51
Q

Fever, night sweats, weight loss

A

B symptoms 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

Keyser Fleischer rings (Wilsons disease due to copper accumulation following decrease ceruluplasmin formation and secretion into the bile for excretion)

54
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyan syndrome (deficiency of HGPRT, XR, leads to hyperuricemia due to inability to recycle purines. Treat with XO inhibitors)

55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands and genitalia.

A

Peutz Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction. Increased risk of GI cancer.

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis.

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Syndrome (mutation in Collagen IV)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver Bucy syndrome (bilater amygdala lesion)

59
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damages

61
Q

Hypoxemia, polycythemia, hypercapnia

A

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

62
Q

Indurated, ulcerated genital lesion

A

Syphillis (nonpainful), Haemophilis ducreyi (painful and exudative)

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 phosphotase deficiency)

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

Courvosier sign (distal malignant obstruction of biliary tree)

67
Q

Large rash with bulls eye appearance

A

Erythema chronicum migrans from Ixodes Tick bite (Lyme Disease)

68
Q

Lucid interval after traumatic brain injury before decline

A

Epidural hematoma (does not cross suture lines on CT, 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 IIB/IIIA)

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Becks triad (cardiac tamponade)

72
Q

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

A

Gardner syndrome (subtype of FAP, APC then KRAS then P53 leads to colon carcinoma)

73
Q

Myopathy, exercise intolerance, cardiomyopathy

A

Pompe disease (lysosomal glycogen breakdown disorder)

74
Q

Neonate with arm paralysis following birth complicated by large gestational age or dystocia

A

Erb-duchennes palsy (superior trunk of brachial plexus causing waiters tip deformity)

75
Q

No lactation postpartum, absent menses, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

77
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (Mycoplasma, mono, CLL)

78
Q

Painful red raised lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

79
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli, microabcesses)

80
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

81
Q

Palpable purpura on buttock/legs, joint pain, abdominal pain, hematuria

A

HSP (IgA vasculitis of skin and kidneys)

82
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (Autosomal dominant)

83
Q

Periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

84
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“Pink puffer” centriacinar associated with smoking, panacinar associated with a1antitrypsin deficiency, FEV1/FVC ratio below 70% of expected, lung often hyperinflated)

85
Q

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

A

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

86
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen Planus

87
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

88
Q

Pupil accomodates but doesn’t react

A

Neurosyphillis (Argylle robinson pupil)

89
Q

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

A

Guillan Barre syndrome (acute inflammatory demyelinating polyradiculopathy cause by T cell activation agains myelin, associated most often with campylobacter)

90
Q

Rash on palms and soles

A

Rockey mountain spotted fever, secondary syphillis, or Cocksackie A (Hand Foot Mouth)

91
Q

Recurrent cold abscesses, unusual eczema, high serum IgE

A

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

92
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumonia

93
Q

Red “currant jelly” stool

A

Acute mesenteric ischemia in adults, intussusception in kids

94
Q

Red, itchy, swollen rash of nipple/areola

A

Pagets disease of the breast (sign of underlying neoplasm)

95
Q

Red urine in morning, fragile RBCs

A

PNH (RBCs have poor tolerance for decrease in PaO2 at night and hemolyze)

96
Q

Renal cell carcinoma, hemagioblastomas, angiomatosis, pheochromocytoma

A

von Hipple Lindau (dominant tumor suppressor disease)

97
Q

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

A

Parkinsons disease (loss of dopaminergic neurons in SN pars compacta, may also be due to overdosing of neuroleptics)

98
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

99
Q

Severe jaundice in neonate

A

Criggler Najjar syndrome (type I worse than type II, congenital deficiency or lack of enzyme that conjugates bilirubin)

100
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

101
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

102
Q

Short stature, care au lait spots, thumb/radial defects, increased incidence of tumors, leukemia, and aplastic anemia

A

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

103
Q

Single palmar crease

A

Down syndrome

104
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartageners syndrome (primary ciliary dyskinesia, due to failure of dynein arms to work correctly)

105
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenal insufficiency (addisons disease)

106
Q

Slow, progressive muscle weakness in a boy

A

Beckers muscular dystrophy (X linked mutation in dystrophin, not caused by framshift mutation, less severe than duchennes)

107
Q

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

A

Koplik Spots (Measles)

108
Q

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

A

Condyloma lata (secondary syphillis)

109
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

110
Q

“Strawberry tongue”

A

Scarlet fever or Kawasaki’s disease

111
Q

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

A

Turners Syndrome (45, XO)

112
Q

Sudden swollen/painful big toe joint, tophi

A

Gout (hyperuricemia, treat with NSAIDs and glucocorticoids depending on comorbidities, colchicine may also be used. Allopurinol may be used to prevent future attacks)

113
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency leading to poor hydroxylation of proline and lysine resides in collagen synthesis)

114
Q

Swollen hard painful finger joints

A

Osteoarthritis (PIP Buochards, DIP Heberdons)

115
Q

Systolic ejection murmur with crescendo decrescendo

A

Aortic stenosis

116
Q

Telangeictasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, gi bleeding, hematuria

A

Osler-weber-rendu (hereditary hemorrhagic telangiectasia)

117
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A

118
Q

Thyroid tumors, pheochromocytoma, ganglineuromatosis

A

MEN2B

119
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN damage)

120
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (CNVII lesion)

121
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive arthritis

122
Q

Vascular birthmark (port wine stain) on face

A

Nevus flammeus (benign, associated with Sturge weber)

123
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

124
Q

Worst headache of life

A

Subarachnoid hemorrhage

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