Flashcards - High Yield

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 ( 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

hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

2° 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 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 ( 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 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 I, pheochromocytoma, optic gliomas

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19
Q

Calf pseudohypertrophy

A

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

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20
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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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, pericardial effusion/friction rub, persistent fever following MI pericarditis, 2–12 weeks after acute episode)

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous

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24
Q

Chest pain with ST depressions on EKG

A

Unstable angina (troponins −) or NSTEMI (troponins +)

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25
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
26
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
27
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
28
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
29
Cold intolerance
Hypothyroidism
30
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
31
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
32
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, 5-HIAA)
33
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
34
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
35
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
36
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
37
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
38
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
39
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
40
Elastic skin, hypermobility of joints,  bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
41
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
42
Episodic vertigo, tinnitus, hearing loss
Meniere disease
43
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
44
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
45
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
46
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
47
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
48
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
49
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher
50
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
51
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
52
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
53
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
54
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
55
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
56
Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
57
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
58
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
59
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
60
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
61
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
62
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
63
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
64
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
65
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
66
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
67
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
68
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)
69
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
70
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
71
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
72
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
73
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
74
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
75
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
76
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
77
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
78
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
79
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])
80
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
81
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
82
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
83
Pupil accommodates but doesn’t react
Argyll Robertson pupil (neurosyphilis)
84
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
85
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
86
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
87
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (children)
88
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
89
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
92
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
96
Short stature, café au lait spots, thumb/radial defects,  incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Down syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
1° adrenocortical insufficiency (e.g., Addison disease) causes  ACTH and  α-MSH production)
100
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation indystrophin; less severe than Duchenne)
101
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
102
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2° syphilis)
103
“Strawberry tongue”
Scarlet fever, Kawasaki disease
104
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
105
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
106
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
107
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
108
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
109
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
110
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
111
Unilateral facial drooping involving forehead LMN
facial nerve (CN VII) palsy; UMN lesions spare the forehead
112
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
113
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
114
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
115
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
116
“Worst headache of my life”
Subarachnoid hemorrhage