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Rapid Review World > Classic presentations > Flashcards

Classic presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia ( decrease LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen 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 dislocation (upward), 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 adrenopathy, 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 infection

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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, wide pulse pressure, diastolic heart murmur, head bobby

A

aortic regurgitation

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17
Q

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

A

Systemic lupus erythematosus

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18
Q

Café-Au-Lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type 1

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19
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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20
Q

Calf pseudohypertorphy

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, hand-foot changes

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 at 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 with ST depression on EKG

A

unstable angina (negative troponins) or NSTEMI ( positive troponins)

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26
Q

Child uses arm to stand up from squat

A

Duchenne muscular dystrophy ( Gowers sign)

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27
Q

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

A

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

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat 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 gase palsy, horizontal diplopia

A

Intranuclear 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; keep open with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome ( right-sided cardiac valvular lesions, increase 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

Diabetic ketoacidosis ( Kussmaul respiration)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra ( niacin [vitamin B3] deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet berberi (thiamine [vitamin 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

Sjogern 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, hyper mobility of joints, increase bleeding tendency

A

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

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44
Q

Enlarged, hard left supraclavicular 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 fungicides + 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

Jarisch-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 ( staging) 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

wilson disease ( Kayser-Flesher rings due to copper accumulation)

54
Q

Gout, intellectual disability, self mutilating behavior in boy

A

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

55
Q

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

A

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

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aspetic 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 ( 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

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

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre ( primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid ( homophiles ducreyi)

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 ( deb ranching enzyme deficiency) or Von Gierke disease ( glucose-6-phosophate deficiency, more severe)

65
Q

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

A

Edwards syndrome ( trisomy 18)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign ( distal malignant obstruction of biliary tree)

67
Q

Large rash with bull’s eye appearance

A

Erythema chronic migraines from Ixodes tick bite ( Lyme disease: Borrelia)

68
Q

Lucid interval after traumatic brain injury

A

Epidermal hematoma ( 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 GpIIb/IIIa)

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome ( subtype FAP)

73
Q

Myopathy ( infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

74
Q

Neonate with arm paralysis following difficult birth

A

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

75
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome ( pituitary infarction)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

77
Q

Painful blue fingers/toes, hemolytic anemia

A

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

78
Q

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

A

Raynaud phenomenon ( vasospasm in extremities)

79
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes ( infective endocarditis, immune complex deposition)

80
Q

Painless erythematous lesions on palms and soles

A

Laneway lesions ( infective endocarditis, septic emboli/microabscesses)

81
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

82
Q

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

A

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

83
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 ( autosomal dominant)

84
Q

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

A

nephrotic syndrome

85
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema ( “pink-puffer,” centriacinar [smoking] or panacinar [alpha1-antitrypsin deficiency])

86
Q

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

A

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

87
Q

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

A

Lichen planus

88
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome ( sympathetic chain lesion)

89
Q

Pupil accommodates but does react

A

Neurosyphilis ( Argyll Robertson pupil)

90
Q

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

A

Guillain-Barre syndrome ( acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

Rash on palms and soles

A

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

92
Q

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

A

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

93
Q

Red “ current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

94
Q

Red “ current jelly” stools

A

Acute mesenteric ischemia ( adults), intussusception ( children)

95
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of breast ( sign of underlying neoplasm)

96
Q

red urine the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

97
Q

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

A

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

98
Q

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

A

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

99
Q

Retinal hemorhhages with pale centers

A

Roth spots ( bacterial endocarditis)

100
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome ( congenital unconjugated hyperbilirubinemia)

101
Q

Severe RLQ pain with palpation of LLQ

A

Roving sign ( acute appendicitis)

102
Q

Severe RLQ pain with deep tenderness

A

McBurney sign ( acute appendicitis )

103
Q

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

A

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

104
Q

Single palmar crease

A

Down syndrome

105
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome ( dynein arm defect affecting cilia)

106
Q

Skin hyper pigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency ( eg, Addison disease) causes increase ACTH and increase alpha-MSH production)

107
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy ( X-linked missnese mutation in dystrophin; less severe than Duchenne)

108
Q

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

A

Koplik spots ( measles [rubeola] virus)

109
Q

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

A

Condylomata lata ( secondary syphilis)

110
Q

Splinter hemorrhages in fingernailes

A

Bacterial endocarditis

111
Q

“strawberry tongue”

A

Scarlet fever, Kawasaki disease

112
Q

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

A

Turner syndrome ( 45,XO)

113
Q

Sudden swollen/painful big toe joint, tophi

A

gout/podagra ( hyperuricemia)

114
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

115
Q

Swollen, hard, painful finger joints

A

Osteroarthritis ( osteophytes on PIB [Bourchard nodes], DIP [Heberden nodes])

116
Q

Systolic ejection murmur ( crescendo-dcrescendo)

A

aortic stenosis

117
Q

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

A

Osler-Weber-Rendu Syndrome

118
Q

Thyroid and parathyroid tumors, pheocromocytoma

A

MEN2A ( autosomal dominant RET mutation)

119
Q

Thyroid tumors, pheochromocytoma, and ganglioneuromatosis

A

MEN2B ( autosomal dominant RET mutation)

120
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign ( UMN lesion)

121
Q

Unilateral facial drooping involving forehead

A

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

122
Q

Urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

123
Q

Vascular birthmark ( port-wine stain) of the face

A

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

124
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome ( alcoholic and Bulimic patients)

125
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease ( Tropheryma while)

126
Q

“worst headache of my life”

A

Subarachnoid hemorrhage

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