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High Yield Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abd pain, ascites, hepatomegaly

A

disease/diagnosis: Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

abd pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” +

A

Anterior cruciate ligament injury

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7
Q

Arachnodactyly, lens dislocations, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

bilateral acoustic schwannomas

A

neurofibromatosis type 2

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11
Q

bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infetion

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13
Q

Blue sclera

A

osteogenesis imperfecta (type I collagen defect)

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14
Q

bluish line on gingiva

A

burton line (lead poisoning)

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15
Q

bone pain, bone enlargement, arthritis

A

Paget disease of bone (increase osteoblastic and osteoclastic activity)

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16
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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17
Q

“Butterfly” facial rash and raynaud phenomenon in young female

A

Systemic Lupus erthematosus

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18
Q

cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type I, pheochromocytoma, optic gliomas

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19
Q

cafe-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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20
Q

calf pseudohypertrophy

A

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

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

“Cherry-red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or 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, 2-12 wees after acute episode)

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25
Q

Chest pain with ST depression on EKG

A

Unstable angina (troponins neg) or NSTEMI (troponins positive)

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26
Q

Child uses arms to stand up from squat

A

Gowers sign (duchenne muscular dystrophy)

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27
Q

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

A

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

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28
Q

chorea, dementia, caudate degeneration

A

huntington disease (autosomal dominant CAG repeast expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

Chronic exercise intolerance with myalgia, 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, may be unilateral or bilateral)

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33
Q

Continuous “machine-like heart murmur”

A

PDA (close with indomethacin, open or maintain with PGE analogs)

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34
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (caused by hypothyroidism, graves (pretibial))

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35
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

kaposi sarcoma, associated with 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 [vit b3] deficiency)

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39
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vit B1] deficiency)

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40
Q

dog or cat bite resulting in infection

A

pasteurella multocida (cellulitis at inoculation site)

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41
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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43
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

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

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44
Q

enlarged, hard left supraclavivular node

A

Virchow node (abdominal metastasis)

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45
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease

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46
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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47
Q

facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

fat, female, forty, and fertile

A

cholelithiasis (gallstones)

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49
Q

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

A

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

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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51
Q

fever, night sweats, weight loss

A

B symptoms (stage) 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

Kayser-Fleischer rings (copper accumulation from wilson disease)

54
Q

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

A

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

55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

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

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, 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 (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN damage

60
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

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

62
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (Primary syphilis, treponema pallidum)

Painful, with exudate: chancroid (haemophilus ducreyi)

63
Q

infant with “cherry-red” spot on macular, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

64
Q

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

A

Patau syndrome (trisomy 13)

65
Q

Infant with hypoglycemia, hepatomegaly

A

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

66
Q

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

A

Edwards syndrome (trisomy 18)

67
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

68
Q

large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (lime disease: Borrelia)

69
Q

lucid interval after traumatic brain injury

A

Epidural Hematoma (middle meningeal artery rupture)

70
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (x-linked agammaglobulinemia)

71
Q

Mucosal bleeding and prolonged bleeding time

A

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

72
Q

muffled heart sounds, distended neck veins, hypotension

A

beck triad of cardiac tamponade

73
Q

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

A

Gardner syndrome (subtype of FAP)

74
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

75
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury: “waiter’s tip”)

76
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

77
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

78
Q

Painful blue fingers/toes, hemolytic anemia

A

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

79
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

80
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

81
Q

Painless erythematous lesions on palm and soles

A

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

82
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

83
Q

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

A

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

84
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

85
Q

periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

86
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar {smoking}, panacinar [alph1-antitrypsin deficiency])

87
Q

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

A

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

88
Q

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

A

Lichen planus

89
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

90
Q

Pupil accommodates but doesnt react

A

Argyll Robertson pupil (neurosyphilis)

91
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

92
Q

Rash on palms and soles

A

Coxsackie A, Secondary syphilis, Rocky mountain spotted fever

93
Q

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

A

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

94
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

95
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (children)

96
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

97
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

98
Q

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

A

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

99
Q

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

A

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

100
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

101
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

104
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)

105
Q

Single palmar crease

A

Down syndrome

106
Q

Situs inversus, chronis sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

107
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (e.g. addison disease) causes: increased ACTH and increased alpha-MSH production

108
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (x-linked missense mutation in dystrophin; less severe than duchenne)

109
Q

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

A

koplik spots (measles; rubeola virus)

110
Q

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

A

Condylomata lata (secondary syphilis)

111
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

112
Q

“Strawberry tongue”

A

scarlet fever, kawasaki disease

113
Q

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

A

turner syndrome (45, XO)

114
Q

Sudden swollen/painful big to joint, tophi

A

Gout/podagra (hyperuricemia)

115
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

116
Q

Swollen, hard, painful finger joints

A

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

117
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

118
Q

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

A

Osler-Weber-Rendu syndrome

119
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

120
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutation)

121
Q

toe extension/ fanning upon plantar scrape

A

Babinski sign (UMN lesion)

122
Q

Unilateral facial drooping involving forehead

A

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

123
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

124
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with sturge-weber syndrome)

125
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

126
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

127
Q

“worst headache of my life”

A

subarachnoid hemorrhage

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