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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 blue sclera

A

Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

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

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4
Q

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

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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5
Q

Calf psudohypertrophy

A

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

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6
Q

Child uses arms to stand up from squat`

A

Duchenne muscular dystrophy (Gowes sign)

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7
Q

Slow, progressive muscle weakness in boys

A

Becher muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

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8
Q

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

A

Patau syndrome (trisome 13)

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9
Q

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

A

Edwards syndrome (trisomy 18)

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10
Q

Single palmar crease

A

Down syndrome

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11
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine (B1) deficiency)

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12
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin (B3) deficiency)

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13
Q

Swollen fums, mucosal bleeding, poor wound healing, petechiae

A

Scurvey (vit C deficiency: Can’t hydroxylate proline/ lysine for collagen synthesis)

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14
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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15
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphage deficiency, more severe)

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16
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)

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17
Q

Cherry red spots on macula

A

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

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18
Q

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

A

Gaucher disease (glucocerebrosidase deficiency)

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19
Q

Achilles tendon xanthoma

A

Familial hypercholsterolemia (decreased LDL receptor signaling)

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20
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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21
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

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22
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

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

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23
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease

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24
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrom (meningococcemia)

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25
Q

Red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

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26
Q

large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (lyme disease: borrelia)

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27
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphillis, Treponema pallidum). Painful, with exudate: chancroid (Haemophilus ducreyi)

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28
Q

Pupil accomodates but doesn’t react

A

Neurosyphillis (Argyll Robertson pupil)

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29
Q

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

A

Condoylomata lata (secondary syphilis)

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30
Q

Fever, chills headache, myalgia following antibiotic treatment for shyphillis

A

Jarish-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like resease)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

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33
Q

Black eschar on face of patient with diabetic ketoacidosis

A

mucor or rhizopus fungal infection

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34
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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35
Q

Fever, cough, conjunctivits, coryza, diffuse rash

A

Measles

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36
Q

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

A

Koplik spots (measles (rubeola) virus)

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37
Q

back pain, fever, night sweats

A

Pott disease (vertebral TB)

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38
Q

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

A

Erythema infectiosum/fifth diesease (slapped cheeks appearance, caused by parvovirus B19)

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39
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficle infection

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40
Q

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

A

aortic regurgitation

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41
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

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42
Q

Continuous “machine like’ heart murmur

A

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

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43
Q

Chest pain on exertion

A

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

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44
Q

Chest pain with ST depression on ECG

A

Angina (- trponins) or NSTEMI (+ troponins)

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45
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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46
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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47
Q

Painless erythematous lesions on plams and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

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48
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

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49
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis

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50
Q

Distant heart sounds, Distended neck veins, hypotension

A

Beck triad of cardiac tamponade

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51
Q

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

A

Kawasaki disease (treat with IVIG and aspirin)

52
Q

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

A

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

53
Q

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

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-REndu syndrome)

54
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (eg: Addison disease) causes increased ACTH and increased alpha MSH production)

55
Q

Cold intolerance

A

Hypothyroidism

56
Q

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

A

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

57
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

58
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

59
Q

Deep, labored breathing/hypoerventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

60
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

61
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

62
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, marfanoid habitus

A

MEN 2B (AD RET mutation)

63
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD RET mutation)

64
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

65
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

66
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

67
Q

Dyshphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

68
Q

Enlarged, hard left supraclavicular node

A

Virchouw node (abdominal metastasis)

69
Q

Weight loss, diarrhea, arthritis, fever adenopathy

A

Whipple disease (Tropheryma whipplei)

70
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

71
Q

Severe RLQ pain with deep tenderness

A

McBurney sigh (acute appendicitis)

72
Q

Hemartomatous GI polyps, hyperpigmentation of mouth/feet/hands.genitalia

A

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

73
Q

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

A

Gardner syndrome (subtype of FAP)

74
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

75
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

76
Q

Golden brown rings round peripheral cornea

A

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

77
Q

Fat, female, forty, fertile, familial

A

Cholethiasis (gallstones)

78
Q

Short stature, cafe-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)

79
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

80
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin diesase (autoimminue hemolytic anemia caused by Mycoplasma pnuemoniae, infections mononucleosis, CLL)

81
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)

82
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

83
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

84
Q

WBCs that look smudged

85
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

86
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

87
Q

Anterior drawer sign +

A

ACL injury

88
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increase osteoblastic and osteoclastic activity)

89
Q

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

A

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

90
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

91
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

92
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

93
Q

Butterfly facial rash and Raynaud phenomenon in a young female

94
Q

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

A

Raynaud phenomenon (vasospaasm in extremities)

95
Q

Anticentromere antibodies

A

Scleroderma (CREST)

96
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

97
Q

Anti-desmoglein (anti-desmosome) antibodies

A

Pemphigus vulgaris (blistering)

98
Q

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

A

Lichen planus

99
Q

Increased AFP in amniotic fluid/maternal serum

A

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

100
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

101
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

102
Q

Lucid interval after TBI

A

Epidural hematoma (Middle Meningeal Artery rupture)

103
Q

Worst headache of my life

104
Q

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

A

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

105
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

106
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

107
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating pilyradiculopathy subtype)

108
Q

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

109
Q

vascular birthmark (port-wine stain) of the face

A

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

110
Q

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromatocytoma

A

VHL disease (dominant tumor suppressor gene mutation)

111
Q

Bilateral acoustic schwannomas

112
Q

hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

113
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

114
Q

Unilateral facial dropping involving forehead

A

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

115
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

116
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

117
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

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

118
Q

Polyuria, RTA II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

119
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

120
Q

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

A

Nephrotic syndrome

121
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

122
Q

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

A

Turner syndrome (45,XO)

123
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

124
Q

Fibrous plaques in soft tissues of penis with abnormal curvature

A

Peyronnie disease (connective tissue disorder)

125
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells, blue bloater)

126
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (‘pink puffer’, centriacinar (smoking) or panacinar (alpha 1 antitrypsin deficiency)

127
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

Biochem (9 decks)

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