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Classic Presentations Flashcards

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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

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 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 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

increase osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Wide pulse pressure
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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17
Q

“Butterfly” facial rash

Raynaud phenomenon in a young female

A

Systemic lupus erythematous

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18
Q 
Café-au-lait spots
Lisch nodules (iris hemartoma)
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 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 aneurysm 
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) or
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
Chest pain with ST depression on EKG
Unstable angina (- troponins) or NSTEMI (+ troponins)
26
Child uses arms to stand up from squat
Duchenne muscular dystrophy | Gowers sign
27
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease | "slapped cheeks" appearance, caused by parvovirus B19
28
Chorea Dementia Caudate degeneration
``` Huntington disease (autosomal dominant CAG repeat expansion) ```
29
Chorioretinitis Hydrocephalus Intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia Fatigue Painful cramps Myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold intolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy | Horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine-like" heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
34
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
35
Cutaneous flushing Diarrhea Bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increase 5-HIAA)
36
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
37
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
38
Dermatitis Dementia Diarrhea
Pellagra (niacin [vitamin B3] deficiency)
39
Dilated cardiomyopathy Edema Alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficency)
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
Dry eyes Dry mouth Arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
42
Dysphagia (esophageal webs) Glossitis Iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
43
Elastic skin Hypermobility of joints Increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo Tinnitus Hearing loss
Meniere disease
46
Erythroderma Lymphadenopathy Hepatosplenomegaly Atypical T cells
``` Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood) ```
47
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat Female Forty Fertile
Cholelithiasis (gallstones)
49
Fever Chills Headache Myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
50
``` Fever Cough Conjunctivitis Coryza Diffuse rash ```
Measles
51
Fever Night sweats Weight loss
B symptoms (staging) of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
54
Gout Intellectual disability Self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)
56
``` Hepatosplenomegal Pancytopenia Osteoporosis Aseptic necrosis of femoral head Bone crises ```
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis Sensorineural hearing loss Cataracts
Alport syndrome (mutation in collage IV)
58
Hyperphagia Hypersexuality Hyperorality Hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia Hypertonia Babinski sign present
UMN damage
60
Hyporeflexia Hypotonia Atrophy Fasciculations
LMN damage
61
Hypoxemia Polycythemia Hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, "blue bloater")
62
Indurated, ulcerated genital lesion
Nonpainful: chancre (1ry syphilis, Treponema pallidum) | Painful, with exudate: chancroid (Haemophilus ducreyi)
63
Infant with cleft lip/palate Microcephaly or holoprosencephaly Polydactyly Cutis aplasia
Patau syndrome (trisomy 13)
64
Infant with hypoglycemia | Hepatomegaly
``` Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe) ```
65
Infant with microcephaly Rocker-bottom feet Clenched hands Structural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice | Palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
68
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
69
Male child Recurrent infections No mature B cells
Bruton disease (X-linked agammaglobulinemia)
70
Mucosal bleeding | Prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
71
Muffled heart sounds Distended neck veins Hypotension
Beck triad of cardiac tamponade
72
Multiple colon polyps Osteomas/soft tissue tumors Impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
Myopathy (infantile hypertrophic cardiomyopathy) | Exercise intolerance
Pompe disease (lysosomal a-1,4-glucosidase deficiency)
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
75
No lactation postpartum Absent menstruation Cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus Intention tremor Scanning speech Bilateral internuclear ophthalmoplegia
Multiple sclerosis
77
Painful blue fingers/toes | Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
80
Painless erythematous lesions on palms and soles
Laneway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schölein purpurn (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
84
Periorbital and/or peripheral edema Proteinuria (>3.5 g/day) Hypoalbuminemia Hypercholesterolemia
Nephrotic syndrome
85
Pink complexion Dyspnea Hyperventilation
Emphysema ("pink puffer," centriacinar [smoking] or panacinar [a1-antitrypsin deficiency])
86
``` Polyuria Renal tubular acidosis type II Growth failure Electrolyte imbalances Hypophosphatemic rickets ```
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
87
Pruritic, purple, polygonal planar papules and plaques (6P's)
Lichen planus
88
Ptosis Miosis Anhidrosis
Horner syndrome (sympathetic chain lesion)
89
Pupil accommodates but doesn't react
Neurosyphilis (Argyll Robertson pupil)
90
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillan-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, 2ry syphilis, Rocky Mountain spotted fever
92
Recurrent cold (noninflamed) abscesses Unusual eczema High serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
Red "currant jelly" stools
Acute mesenteric ischemia (adults) | Intussusception (children)
95
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
96
Red urine in the morning | Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
97
Renal cell carcinoma (bilateral) Hemangioblastomas Angiomatosis Pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
98
``` Resting tremor Rigidity Akinesia Postural instability Shuffling gait ```
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
99
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
101
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
103
``` Short stature Café au lait spots Thumb/radial defects Increased incidence of tumors/leukemia Aplastic anemia ```
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
104
Single palmar crease
Down syndrome
105
Situs inversus Chronic sinusitis Bronchiectasis Infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
Skin hyperpigmentation Hypotension Fatigue
1ry adrenocortical insufficiency (eg Addison disease) causes increased ACTH and increased a-MSH production)
107
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
108
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
109
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2ry syphilis)
110
Splinter hemorrhages in fingernails
Bacterial endocarditis
111
"Strawberry tongue"
Scarlet fever | Kawasaki disease
112
``` Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphedema ```
Turner syndrome (45, XO)
113
Sudden swollen/painful big toe joint | Tophi
Gout/podagra (hyperuricemia)
114
Swollen gums Mucosal bleeding Poor wound healing Petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
115
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
116
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
117
``` Telangiectasias Recurrent epistaxis Skin discoloration Arteriovenous malformations GI bleeding Hematuria ```
Osler-Weber-Rendu syndrome
118
Thyroid and parathyroid tumors | Pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
Thyroid tumors Pheochromocytoma Ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
120
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
121
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
122
Urethritis Conjunctivitis Arthritis in a male
Reactive arthritis associated with HLA-B27
123
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
124
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
125
``` Weight loss Diarrhea Arthritis Fever Adenopathy ```
Whipple disease (Tropheryma whipplei)
126
"Worst headache of my life"
Subarachnoid hemorrhage

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