Classic Presentations Flashcards
(119 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia ( LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral tuberculosis)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (Type I collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
Butterfly facial rash and Raynaud’s phenomenon in young female
A
Systemic lupus erythematosus
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
16
Q
Cherry-red spot on macula
A
Tay-Sachs (Deficient Hexosaminidase A, GM2 ganglioside accumulation) or Niemann-Pick (Deficient Sphingomyelinase, sphingomyelin accumulation), central retinal artery occlusion
17
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)
18
Q
Child uses arms to stand up from squat
A
Gowers’ sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
19
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
20
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant CAG repeat expansion)
21
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
22
Q
Cold intolerance
A
Hypothyroidism
23
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
24
Q
Continuous “machinery” heart murmur
A
PDA (close with indomethacin; open with misoprostol)
25
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism, Graves' disease)
26
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
27
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
28
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
29
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [vitamin B1] deficiency)
30
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
31
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
32
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
33
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome ( Type III collagen defect)
34
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
35
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
36
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
37
Fat, female, forty, and fertile
Acute cholecystitis (bile duct blockage)
38
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
40
Fever, night sweats, weight loss
B symptoms (lymphoma)
41
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
42
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
44
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; cancer risk)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency, glucocerebroside accumulation)
46
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (mutation in chain of type IV collagen)
47
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's syndrome (adenocarcinoma of pancreas or lung)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, positive Babinski sign
UMN damage
50
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome (Primary hyperaldosteronism)
51
Hyporeflexia, hypotonia, atrophy
LMN damage
52
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Nonpainful: chancre (Primary syphilis, Treponema pallidum)
54
Painful, with exudate:
Chancroid (Haemophilus ducreyi)
55
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency, 1,6-glucosidase)
57
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards' syndrome (trisomy 18)
58
Jaundice, RUQ pain, fever
Charcot's triad (ascending cholangitis)
59
Keratin pearls on a skin biopsy
Squamous cell carcinoma
60
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
61
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
62
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
63
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
65
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal 1,4-glucosidase deficiency)
66
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
67
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
68
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
69
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
70
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or intracranial pressure)
71
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
72
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
73
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
74
Painless, erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
75
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
76
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (lgA vasculitis affecting skin and kidneys)
77
Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome (MEN 1 - autosomal dominant)
78
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
79
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
80
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
81
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever
85
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
86
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
88
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
89
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
90
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
91
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
93
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
94
Short stature, _ incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetically loss of DNA crosslink repair; often progresses to AML)
95
Single palm crease
Simian crease (Down syndrome)
96
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
97
Skin hyperpigmentation
Addison's disease (Primary adrenocortical insufficiency of autoimmune or infectious etiology, ACTH and MSH production)
98
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
99
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus)
100
Smooth, flat, moist white lesions on genitals
Condylomata lata (Secondary syphilis)
101
Splinter hemorrhages in fingernails
Bacterial endocarditis
102
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
103
Streak ovaries, congenital heart disease, horseshoe kidney
Turner syndrome (45XO, short stature, webbed neck, lymphedema)
104
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
105
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
106
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
107
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
108
Thyroid and parathyroid tumors, pheochromocytoma
Sipple's syndrome (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's sign (UMN lesion)
111
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
112
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
113
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
114
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction (following second exposure to endotoxin)
115
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
116
Waxy casts with very low urine flow
Chronic end-stage renal disease
117
WBC casts in urine
Acute pyelonephritis
118
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
119
Worst headache of my life
Subarachnoid hemorrhage
