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AA_Rapid Review > 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

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome

(Meningococcemia → Adrenal hemorrhage)

(Adrenal Crisis = Shock + Hyponatremia, Hyperkalemia, & Hypoglycemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Erythropoietin injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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8
Q

Blue sclera

A 
Osteogenesis imperfecta 
(AD, Type 1 Collagen defect)
(other Px = multiple fractures & hearing loss)
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9
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

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

A

Systemic lupus erythematosus

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13
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas), Neurofibromatosis type II (+ bilateral acoustic neuromas)

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

A

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

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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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16
Q

Cherry-red spot on macula

A

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

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17
Q

Chest pain on exertion

A

Angina (stable: moderate exertion; unstable: minimal exertion)

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18
Q

Chest pain, pericardial effusion/friction rub, persistent fever following MI

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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19
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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20
Q

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

A

Slapped cheeks (erythema infectiosum/fifth disease: Parvovirus B19

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal-dominant CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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25
Q

Continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves’ disease [periorbital])

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [gay men]: associated with HHV-8

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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30
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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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

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome

type III collagen –Reticulin– defect

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or Mycosis fungoides

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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, female, forty, and fertile

A

Acute choleslithiasis (bile duct blockage)

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39
Q

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

A

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

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (lymphoma)

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

Gout, mental retardation, self-mutilating behavior in a boy

A

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

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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome

XLR, mutation in α-chain of collagen IV

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48
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s sign (adenocarcinoma of pancreas or lung)

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49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

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50
Q

Hyperreflexia, hypertonia, positive Babinski sign

A

Upper motor neuron (UMN) damage

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51
Q

Hypertension, hypokalemia, metabolic alkalosis

A

Conn’s syndrome

aldosterone-producing adenoma

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52
Q

Hyporeflexia, hypotonia, atrophy

A

Lower motor neuron (LMN) damage

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53
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue bloater (chronic bronchitis: hyperplasia of mucous cells)

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54
Q

Indurated, ulcerated genital lesion

A

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

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55
Q

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

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56
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

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57
Q

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

A

Edwards’ syndrome (trisomy 18)

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58
Q

Keratin pearls on skin biopsy

A

Squamous cell carcinoma

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59
Q

Large rash with bull’s-eye appearance

A

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

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

A

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

63
Q

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

A

Gardner’s syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

65
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegener’s (c-ANCA positive) and Goodpasture’s syndromes (anti-basement membrane antibodies

66
Q

Neonate with arm paralysis following difficult birth

A

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

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations

central apnea in CHF or increased intracranial pressure

70
Q

Painful blue fingers/toes, hemolytic anemia

A

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

71
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

72
Q

Painful, raised red lesions on palms and soles

A

Osler’s nodes (infective endocarditis)

73
Q

Painless, erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct – so likely ↑conjugated bilirubin

(HCC doesn’t typically cause jaundice)

75
Q

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

A

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

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I (autosomal dominant)

77
Q

Pink complexion, dyspnea, hyperventilation

A

Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha 1-antitrypsin deficiency])

78
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

80
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

82
Q

Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)

A

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

84
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

85
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (represents underlying neoplasm)

87
Q

Red urin in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

88
Q

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

A

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

89
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

90
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

91
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

92
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

93
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

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

94
Q

Single palm crease

A

Simian crease (Down syndrome)

95
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

96
Q

Skin hyperpigmentation

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

97
Q

Slow, progressive muscle weakness in boys

A

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

98
Q

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

A

Koplik spots (measles; rubeola paramyxovirus)

99
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata (secondary syphilis)

100
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

101
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

102
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

A

Turner syndrome (45 XO, short stature, webbed neck, lymphedema)

103
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

104
Q

Swollen gums, mucous bleeding, poor wound healing, spots on skin

A

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

105
Q

Swollen, hard, painful finger joints

A

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

106
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

107
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

108
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

109
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

110
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

111
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

112
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome)

113
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

114
Q

Waxy” casts with very low urine flow

A

Chronic end-stage renal disease

115
Q

WBC casts in urine

A

Acute pyelonephritis

116
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whippelii)

117
Q

Worst headache of my life

A

Subarachnoid hemorrhage

118
Q

Lower back pain w/ morning stiffness in a young man

morning stiffness improves w/ activity throughout the day

A 
Ankylosing Spondylitis
(HLA B27 serotype)
119
Q

Paternal Allele is not expressed

A

Prader-Willi syndrome

Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

120
Q

Maternal Allele is not expressed

A

Angelman Syndrome

Mental retardation, seizures, ataxia, inappropriate laughter

121
Q

Nutmeg Liver

A

Cor Pulmonale (right-sided heart failure) or Budd Chiari Syndrome

(due to post-hepatic backup of blood)

122
Q

Hematemesis, Esophageal Varices, & NORMAL liver biopsy

A

Portal Vein Thrombosis

FYI: would also probably be Splenomegaly

123
Q

2:1 ALT:AST ratio

A

Alcoholic liver disease

124
Q

↑anti-mitochondrial antibody (AMA)

A

Primary Biliary Cirrhosis

125
Q

Scleral icterus w/ mildly inc’d unconjugated bilirubin in 25-yr old patient following particularly stressful event

A

Gilbert Syndrome

dec’d UDP Glucuronyltransferase
(Patient asymptomatic, stressed, or fasting)

126
Q

Black Liver

A

Dubin-Johnson

(AR, impaired conjugated bilirubin secretion due to defective MRP-2 cannalicular protein)
(Color = Polymers of epinephrine metabolites)

127
Q

Tired, itchy woman w/ elevated Alkaline Phosphatase & AMA

A

Primary Biliary Cirrhosis

may also have xanthelasma from inability to excrete cholesterol – look like little yellow nodules around eyes

128
Q

“Beading” appearance on Cholangiogram

A

Primary Sclerosing Cholangitis

(obliterative fibrosis of intra- & extra-hepatic ducts – histology shows “onion-skin” appearance)
(also ass’d w/ Ulcerative Colitis)

129
Q

Fatigue, high alkaline phosphatase, & concurrent diagnosis of Ulcerative Colitis

A

Primary Sclerosing Cholangitis

130
Q

Chronic diarrhea, failure to thrive & recurrent respiratory infections w/ Pseudomonas aeruginosa

A

Cystic Fibrosis (usually young Caucasian boy)

(Steatorrhea & failure to thrive due to malabsorption secondary to pancreatic insufficiency, which can be corrected by pancreatic enzyme supplementation)

131
Q

“Spike & Dome” appearance w/ subepithelial deposits on EM

A

Membranous nephropathy

Nephrotic syndrome, SLE’s nephrotic presentation

132
Q

“Tram Track” appearance on light microscopy

A 
Membranoproliferative Glomerulonephritis (Type 1)
(Nephrotic or Nephritic)
  • “Tram track” appearance due to GBM splitting caused by mesangial ingrowth
133
Q

LM shows mesangial expansion, GBM thickening, & eosinophilic nodular glomerulosclerosis (Kimmelstiel-Wilson lesion)

A

Diabetic Glomerulonephropathy

134
Q

Most common cause of death in SLE

A

Diffuse Proliferative Glomerulonephritis

135
Q

Rapidly Progressive Glomerulonephritis w/ p-ANCA staining

A

Microscopic polyangiitis or Churg-Strauss

(Mic Poly = Necrotizing vasculitis, involves lungs/kidneys
Churg-Strauss = Granulomatous vasculitis w/ Eosinophilia, involves lungs/heart, Asthma)

136
Q

Child (1-3yrs) w/ gingivostomatitis, fever, & lymphadenopathy, also found to have intranuclear inclusions in cells from oral scrapings

A

Primary HSV-1 infection

137
Q

Diabetes, Necrolytic Migratory Erythema, & Anemia

A

Glucagonoma

the rash is typically elevated & present in the groin/lower extremities

138
Q

Immigrant child w/ rash that starts on the face & spreads to the rest of the body w/ post auricular and/or occipital lymphadenopathy

A

Rubella (togavirus)

(Rubeola – paramyxovirus – also causes this type of rash but will also darken or coalesce & does NOT cause post auricular/occipital lymphadenopathy)

139
Q

Infant or child w/ erythematous skin that easily comes off w/ gentle pressure

A

Staphylococcus Scalded Skin Syndrome (SSSS)

produces exfoliatin exotoxin
(not fatal unless skin lesions become infected)

140
Q

Tan-brown round, flat, greasy, coin-like lesion w/ a “stuck on” appearance like it could be easily scratched off.

A

Seborrheic Keratosis

141
Q

Temporal Lobe tumor with BRAF mutation

A

Melanoma

BRAF V600E mutation present in 40-60% of melanomas

142
Q

Late separation of umbilical cord, recurrent indolent skin infections & gingivitis, poor wound healing

A

Leukocyte adhesion deficiency

AR – lack of CD18 antigen necessary for Integrin synthesis
(indolent refers to NON pus-forming)

143
Q

Primary amenorrhea, absent secondary sex characteristics, & olfactory sensory defect

A

Kallman Syndrome

diminished synth of gonadotropic hormones by anterior pituitary

144
Q

Infantile Cataracts & “Frowning Baby” (lack of development of Social Smile)

A

Galactokinase Deficiency

AR

145
Q

Hexagonal or benzene crystals in the urine

A

Cystinuria

defect in cystine transporters of renal tubules

AA_Rapid Review (15 decks)

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