classic presentation Flashcards
(114 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decrease 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 => TB + back pain)
7
Q
Big toe extension/fanning upon plantar scrape
A
Babinski’s sign (UMN lesion)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (collagen defect)
10
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (incr. osteoblastic and osteoclastic activity) :. incr in alkaline phosphatase (signal of incr. bone turnover)
12
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type 1 (+ bilateral acoustic neuromas = type II)
13
Q
Calf pseudohypertrophy
A
Muscular dystrophy (mosl commonly Duchenne’s)
14
Q
Cherry-red spot on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease)
15
Q
Chest pain, pericardial effusion/friction rub, persistent fever following Ml
A
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
16
Q
Child uses arms to stand up from squat
A
Gowers’ sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
17
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
18
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant CAG repeat expansion)
19
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps
A
McArdle’s disease (muscle phosphorylase deficiency)
20
Q
Cold intolerance
A
Hypothyroidism
21
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral [mulliple sclerosis], unilateral [stroke])
22
Q
Continuous “machinery” heart murmur
A
PDA (close with indomethacin; open with misoprostol)
23
Q
Cutaneous/dermal edema due to connective tissue deposition
A
Myxedema (hypothyroidism, Graves’ disease)
24
Q
Dark purple skin/mouth nodules
A
Kaposi’s sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
25
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
26
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B] deficiency)
27
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [vitamin B1] deficiency)
28
Dog or cat bile resulting in infection
Pasteurella multocida
29
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
30
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
31
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (collagen defect)
32
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
33
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
34
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
35
Fat, female, forty, and fertile
Acute cholecystitis (bile duct blockage)
36
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
37
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
38
Fever, night sweats, weight loss
B symptoms (lymphoma)
39
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
40
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
41
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
42
Hamartomatous Gl polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; ^^ cancer risk)
43
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
44
Hereditary nephritis, sensorineuralhearing loss, cataracts
Alport's syndrome (collagen mutation)
45
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
46
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
47
Hypertension, hypokalemia, metabolic alkalosis
Conn's syndrome (Primary hyperaldosteronism)
48
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
49
Indurated, ulcerated genital lesion (nonpainful)
Chancre (Primary syphilis: Treponema pallidum)
50
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
51
Infanl with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranchlng enzyme deficiency)
52
Infant with microcephaly, rocker-bottom feet, and structural heart defect
Edwards' syndrome (trisomy 18)
53
Jaundice, RUQ pain, fever
Charcot's triad 2 (ascending cholangitis)
54
Keratin pearls on a skin lesion
Squamous cell carcinoma
55
Large rash with bull's-eye appearance
Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
56
Lucid interval after traumatic brain injury
Epidural hematoma
57
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
58
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
59
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (genetic disorder, predisposes to colon cancer)
60
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease)
61
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
62
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
63
Nystagmus, intention tremor, scanning speech
Charcot's triad 1 (multiple sclerosis)
64
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or ^^ intracranial pressure)
65
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
66
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
67
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
68
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
69
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
70
Pancrealic, pituitary, parathyroid lumors
Wermer's syndrome (MEN 1)
71
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha-antitrypsin deficiency])
72
Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl
McCune-Albright syndrome (mosaic G-protein signaling mutation)
73
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
74
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
75
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
76
Pupil accommodates but doesn't read
Argyll Robertson pupil (neurosyphilis)
77
Rapidly progressive leg weakness that ascends (following Gl/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
78
Rash on palms and soles
Secondary syphilis, Rocky Mountain spotted fever, coxsackievirus A
79
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-lgE syndrome: neutrophil chemotaxis abnormality)
80
Red "currant jelly" sputum
Klebsiella pneumoniae
81
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
82
Red urine in the morning
Paroxysmal nocturnal hemoglobinuria
83
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
84
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
85
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's disease (lysosomal glucosidase deficiency)
86
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
87
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
88
Severe RLQ pain with rebound tenderness
McBumey's sign (appendicitis)
89
Short stature, ^^ incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetically inherited; often progresses to AML)
90
Single palm crease
Simian crease (Down syndrome)
91
Situs inversus, chronic sinusitis, bronchiectasis
Kartagener's syndrome (dynein defect affecting cilia)
92
Skin hyperpigmentation
Addison's disease (Primary adrenocortical insufficiency of autoimmune or infectious etiology)
93
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
94
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles)
95
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
96
Smoolh, flat, moist white lesions on genitals
Condylomata lata (Secondary syphilis)
97
Splinter hemorrhages in fingernails
Bacterial endocarditis
98
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
99
Streak ovaries, congenital heart disease, horseshoe kidney
Turner's syndrome (XO, short stature, webbed neck, lymphedema)
100
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
101
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
102
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
103
Systolic ejection mumur (crescendo-decrescendo)
Aortic valve stenosis
104
Thyroid, parathyroid, adrenal tumors
Sipple's syndrome (MEN 2A)
105
Ulcerated genital lesion with exudate (painful)
Chancroid (Haemophilus ducreyi)
106
Unilateral facial drooping
Bell's palsy (LMN CNVII palsy)
107
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
108
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
109
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction (following second exposure to endotoxin)
110
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholics and eating disorders)
111
Waxy casts with very low urine flow
Chronic end-stage renal disease
112
WBC casts in urine
Acute pyelonephritis
113
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
114
Worst headache of my life
Subarachnoid hemorrhage
