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Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

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

A

Lesch-Nyham Syndrome (HGPRT deficiency; XLR)

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2
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener Syndrome (primary ciliary dyskinesia); (dynein arm defect involving cilia)

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3
Q

Blue sclera

A

Osteogenesis Imperfecta (type I collagen defect)

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4
Q

Elastic skin, hyper mobility of joints, increased bleeding tendency

A

Ehlers-Dalos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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5
Q

Arachnodactyly, upward lens discoloration, aortic dissection, hyperflexible joints

A

Marfan Syndrome (fibrillar defect)

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6
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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7
Q

Calf pseudohypertrophy

A

Muscular Dystrophy (usually Duchenne, due to XLR frameshift mutation of dystrophin gene)

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8
Q

Child uses arms to stand up from squat

A

Duchenne Muscular Dystrophy (Gower’s sign)

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9
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular Dystrophy (XL missense mutation due to dystrophin

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10
Q

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

A

Patau Syndrome (trisomy 13)

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11
Q

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

A

Edwards Syndrome (trisomy 18)

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12
Q

Single palmar crease

A

Down Syndrome

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13
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi (thiamine (vitamin B1) deficiency)

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14
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin (vitamin B3) deficiency)

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15
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency); can’t hydroxylate proline/lysine for collagen synthesis

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16
Q

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

A

McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)

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17
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke (G-6-phosphatase deficiency; more severe)

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18
Q

Infantile hypertrophic cardiomyopathy (myopathy), exercise intolerance

A

Pompe Disease (lysosomal a-1,4-glucosidase deficiency)

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19
Q

Cherry red spots on macula

A

Tay Sachs (ganglioside accumulation) or Riemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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20
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

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21
Q

Achilles tendon xanthoma

A

Familial Hypercholesterolemia (decreased LDL receptor signaling)

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22
Q

Anaphylaxis following blood transfusion

A

IgA Deficiency

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23
Q

Male child with recurrent infections, no mature B cells

A

Bruton Disease (X-Linked Agammaglobulinemia)

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24
Q

Recurrent cold (non inflamed abscesses, unusual eczema, high serum IgE)

A

Hyper IgE Syndrome (Job Syndrome); neutrophil chemotaxis abnormality

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25
Q

Strawberry tongue

A

Kawasaki Disease, Scarlet Fever

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26
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (meningococcemia)

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27
Q

Red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella Pneumoniae Pneumonia

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28
Q

Large rash with bulls eye appearance

A

Erythema Chronicum Nigrans from Ixodes tick bite (Lyme disease: Borrelia)

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29
Q

Indurated, ulcerated genital lesion

A

Non-painful: chancre (primary syphilis, T. Pallidum); Painful with exudate: chancroid (Haemophilus Ducreyi)

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30
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

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31
Q

Smooth, moist, painless, wart-like white lesion on genitals

A

Condylomata lata (secondary syphilis)

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32
Q

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

A

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

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33
Q

Dog or cat bite resulting in infection

A

Pastourelle Multocida (cellulitis at infection site)

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34
Q

Rash on palms and soles

A

Cocksackie A, Secondary Syphilis, RMSF

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35
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus infection

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36
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital Toxoplasmosis

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37
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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38
Q

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

A

Kopek spots (measles = rubeola virus)

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39
Q

Back pain, fever, night sweats

A

Pott Disease (vertebral TB)

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40
Q

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

A

Erythema Infectiosium (Fifth Disease = “Slapped Cheek”; parvovirus B19)

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41
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. difficile infection

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42
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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43
Q

Systolic crescendo-decrescendo ejection murmur

A

Aortic stenosis

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44
Q

Continuous machine-like murmur

A

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

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45
Q

Chest pain on exertion

A

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

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46
Q

Chest pain with ST depressions on ECG

A

Angina (negative troponins) or NSTEMI (positive troponins)

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47
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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48
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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49
Q

Painless erythematous lesions on palms and soles

A

Laneway lesions (infective endocarditis, septic emboli/microabscesses)

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50
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

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51
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

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52
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

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53
Q

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

A

Kawasaki Disease (treat with IVIG and aspirin)

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54
Q

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

A

Henoch-Schonlein Purpurs (IgA vasculitis affecting skin and kidneys)

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55
Q

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

A

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)

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56
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary Adrenocortical Insufficiency (eg: Addison Disease), causes increased ACTH and increased a-MSH production

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57
Q

Cold intolerance

A

Hypothyroidism

58
Q

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

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

59
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

60
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan Syndrome (postpartum hemorrhage leading to pituitary infarction)

61
Q

Deep, labored breathing/hyperventilation

A

Diabetic Ketoacidosis (Kussmaul respirations)

62
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

63
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (AD)

64
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (AD RET mutation)

65
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD RET mutation)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

68
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholic and bulimic patients)

69
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

70
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

71
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple Disease (Tropheryma whipplei)

72
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

73
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

74
Q

Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia

A

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

75
Q

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

A

Gardner Syndrome (subtype of FAP)

76
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiara Syndrome (post hepatic venous thrombosis)

77
Q

Severe jaundice in neonate

A

Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)

78
Q

Golden brown rings around peripheral cornea

A

Wilson’s Disease

79
Q

What are Kayser-Fleischer rings?

A

In Wilson’s Disease they are rings around the cornea due to copper accumulation

80
Q

Fat, female, forty, fertile, familial

A

Cholelithiasis (gallstones)

81
Q

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

A

Fanconi Anemia

82
Q

What’s the mechanism of Fanconi Anemia?

A

Genetic loss of DNA crosslink repair

83
Q

What can Fanconi Anemia often progress to?

A

AML

84
Q

Red urine in the morning, sailors take warning (fragile RBCs)

A

Paroxysmal Nocturnal Hemoglobinuria

85
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold Agglutinin Disease

86
Q

What is Cold Agglutinin Disease

A

Autoimmune hemolytic anemia caused by Mycoplasma Pneumoniae, infectious mononucleosis, CLL

87
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann Thrombasthenia

88
Q

What is Glanzmann Thrombasthenia?

A

Defect in platelet aggregation due to lack of GpIIb/IIIa

89
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

90
Q

Erythroderma, LAD, hepatosplenomegaly, atypical T cells

A

Mycosis Fungoides (cutaneous T-cell lymphoma) or Sezary Syndrome (mycosis fungicides + malignant T-cells in the blood)

91
Q

WBCs that look smudged

A

CLL

92
Q

Athlete with polycythemia

A

Secondary to EPO injection

93
Q

Neonate with arm paralysis following difficult birth, arm in Waiter’s Tip position

A

Erb-Duchenne Palsy

94
Q

What is Erb’s palsy?

A

C5-C6 brachial plexus injury

95
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

96
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblast and increased osteoclast)

97
Q

Swollen, hard, panful finger joints in an elderly individual, worse with activity

A

Osteoarthritis (osteophytes on PIP- Bouchard’s, on DIP- Heberden’s)

98
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

99
Q

Dry eyes, dry mouth, arthritis

A

Sjogren Syndrome

100
Q

What is Sjogren Syndrome?

A

Autoimmune destruction of exocrine glands

101
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

102
Q

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

A

Systemic Lupus Erythematosus

103
Q

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

A

Raynaud Phenomenon (vasospasm in extremities)

104
Q

Anticentromere antibodies

A

Scleroderma (CREST)

105
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi Sarcoma

106
Q

HHV-8

A

Kaposi Sarcoma

107
Q

Anti-desmoglein (anti-desmosome antibodies)

A

Pemphigus Vulgaris (blistering) “You’re not gonna glean much from those blisters)

108
Q

Pruritic, purple, polygonal, planar papules and plaques

A

Lichen Planus

109
Q

Elevated AFP in amniotic fluid/maternal serum

A

Dating error, anencephaly, spina bifida (open neural tube defects)

110
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

111
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy Syndrome (bilateral amygdala lesion)

112
Q

Lucid interval after TBI

A

Epidural Hematoma (middle meningeal artery rupture)

113
Q

Worst headache of my life

A

Subarachnoid hemorrhage

114
Q

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

A

Parkinson’s Disease

115
Q

Parkinson’s Disease pathophysiology

A

Loss of dopaminergic neurons in substantia nigra pars compacta

116
Q

Chorea, dementia, caudate degeneration

A

Huntington’s Disease (CAG)

117
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

MS

118
Q

Lesion in MLF

A

MS

119
Q

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

A

Guillain-Barre Syndrome

120
Q

Cafe au Lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF1

121
Q

Vascular birthmark (port-wine stain) of the face

A

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

122
Q

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

A

Von Hippel-Lindau Disease (dominant tumor suppressor gene mutation)

123
Q

Bilateral acoustic schwannomas

A

NF2

124
Q

Hyperreflexia, hypertonia, atrophy, fasciculations

A

LMN damage

125
Q

Unilateral facial drooping involving forehead

A

LMN damage (CN7 palsy)

126
Q

UMN lesions spare the ____?

A

Forehead

127
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere Disease

128
Q

Ptosis, anhidrosis, miosis

A

Horner Syndrome (sympathetic lesion) “PAM is sympathetic when horny”

129
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF, may be unilateral or bilateral)

130
Q

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

A

Fanconi Syndrome

131
Q

What is Fanconi Syndrome?

A

Multiple combined dysfunction of the PCT

132
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

133
Q

Periorbital and/or peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

134
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

135
Q

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

A

Turner’s Syndrome (XO)

136
Q

Red, itchy, swollen rash of the nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

137
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (CT disorder) “Your peyronie is looking a little abnormally curved”

138
Q

Hypoxemia, polycythemia, hypercapnia

A

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

139
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema “pink puffer” centriacinar (smoking) or panacinar (a-1 antitrypsin deficiency)

140
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granuloma)

Rapid Review (6 decks)

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