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RAPID REVIEW CLASSIC PRESENTATIONS Flashcards

1
Q

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

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

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2
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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4
Q

Elastic skin, hypermobility of joints,bleeding tendency

A

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

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5
Q

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (Gs-protein activating mutation)

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7
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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8
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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9
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

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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 disease (glucose-6-phosphatase deficiency, more severe)

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18
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

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19
Q

“Cherry-red spots” on macula

A

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

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20
Q

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

A

Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency)

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21
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (LDL receptor signaling)

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22
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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23
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

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24
Q

Recurrent cold (noninflamed) abscesses, eczema, high serum IgE,eosinophils

A

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

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25
Q

“Strawberry tongue”

A

Scarlet fever

Kawasaki disease

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26
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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27
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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28
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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29
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

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30
Q

Large rash with bull’s-eye appearance

A

Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)

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31
Q

Ulcerated genital lesion

A

Nonpainful, indurated: chancre (1° syphilis, Treponema, pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

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32
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

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33
Q

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

A

Condylomata lata (2° syphilis)

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34
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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35
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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36
Q

Rash on palms and soles

A

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

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37
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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38
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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39
Q

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

A

Erythema infectiosum/fifth disease (“slapped cheeks” appareance, caused by parvovirus B19)

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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41
Q

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

A

Koplik spots (measles [rubeola] virus)

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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 ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

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44
Q

Continuous “machine-like” heart 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 (⊝ troponins) or NSTEMI (⊕ 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

Janeway 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 lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot

A 
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
changes
54
Q

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

A

Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)

55
Q

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

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

56
Q

Skin hyperpigmentation, hypotension, fatigue

A

1° adrenocortical insufficiency > ACTH, ^ α-MSH (eg, Addison disease)

57
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

58
Q

Cold intolerance, weight gain, brittle hair

A

Hypothyroidism

59
Q

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

A

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

60
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

61
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

62
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

63
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

64
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (autosomal dominant RET mutation)

65
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

68
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

69
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

70
Q

Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea

A

Whipple disease (Tropheryma whipplei)

71
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

72
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

73
Q

Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia

A

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

74
Q

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

A

Gardner syndrome (subtype of FAP)

75
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

76
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

77
Q

Golden brown rings around peripheral cornea

A

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

78
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

79
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

80
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

81
Q

Short stature, café-au-lait spots, thumb/radial defects, ^ incidence of tumors/leukemia, aplastic anemia

A

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

82
Q

Red/pink urine, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

83
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious
mononucleosis, CLL)

84
Q

Petechiae, mucosal bleeding, prolonged bleeding time

A

Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)

85
Q

Fever, night sweats, weight loss

A

B symptoms of malignancy

86
Q

Skin patches/plaques, Pautrier microabscesses, atypical T cells

A 
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant
T cells in blood)
87
Q

WBCs that look “smudged”

A

CLL

88
Q

Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position

A

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)

89
Q

Anterior drawer sign ⊕

A

Anterior cruciate ligament injury

90
Q

Bone pain, bone enlargement, arthritis

A

Osteitis deformans (Paget disease of bone,osteoblastic and osteoclastic activity)

91
Q

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

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

92
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

93
Q

Dry eyes, dry mouth, arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

94
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

95
Q

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

A

Systemic lupus erythematosus

96
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

97
Q

Anticentromere antibodies

A

Scleroderma (CREST)

98
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

99
Q

Anti-desmoglein (anti-desmosome) antibodies

A

Pemphigus vulgaris (blistering)

100
Q

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

101
Q

^ AFP in amniotic fluid/maternal serum

A

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

102
Q

Ataxia, nystagmus, vertigo, dysarthria

A

Cerebellar lesion

103
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

104
Q

Hyperphagia, hypersexuality, hyperorality

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

105
Q

Resting tremor, athetosis, chorea

A

Basal ganglia lesion

106
Q

Lucid interval after traumatic brain injury rupture)

A

Epidural hematoma (middle meningeal artery

107
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

108
Q

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

A

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

109
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

110
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

111
Q

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

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

112
Q

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic
gliomas

A

Neurofibromatosis type I

113
Q

Vascular birthmark (port-wine stain) of the face

A

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

114
Q

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

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

115
Q

Bilateral vestibular schwannomas

A

Neurofibromatosis type 2

116
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

117
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

118
Q

Spastic weakness, sensory loss, bowel/bladder dysfunction

A

Spinal cord lesion

119
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

120
Q

Episodic vertigo, tinnitus, hearing loss

A

Ménière disease

121
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

122
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

123
Q

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

A

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

124
Q

Athlete with polycythemia

A

2° to erythropoietin injection

125
Q

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

A

Nephrotic syndrome

126
Q

Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation

A

Alport syndrome (mutation in collagen IV)

127
Q

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

A

Turner syndrome (45,XO)

128
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

129
Q

Fibrous plaques in tunica albuginea of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

130
Q

Hypoxemia, polycythemia, hypercapnia

A

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

131
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])

132
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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