Classic Presentations Flashcards
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningiococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral tuberculosis)
6
Q
Big toe extension/fanning upon plantar scrape
A
Babinski’s sign (UMN lesion)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis
8
Q
Blue sclera
A
Osteogenesis imperfecta (collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement (increased hat size), fractures, arthritis
A
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
11
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (plus bilateral acoustic neuromas=tyype II)
12
Q
Calf psuedohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s)
13
Q
Cherry-red spot on macula (3)
A
Tay-Sach’s (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease), central retinal artery occlusion
14
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s syndrome
15
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
16
Q
Child with fever develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19
17
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant CAG repeat expansion)
18
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps
A
McArdle’s disease (muscle phosphorylase deficiency)
19
Q
Cold intolerance
A
hypothyroidism
20
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opththalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])
21
Q
Continuous machinery heart murmur
A
PDA (close with indomethacin, open with misoprostol)
22
Q
Cutaneous/dermal edema due to connective tissue deposition
A
Myxedema (hypothyroidism, Graves’ disease)
23
Q
Dark purple skin/mouth nodules
A
Kaposi’s sarcoma (usually AIDS patients, associated with HHV-8)
24
Q
Deep, labored breathing/hyperventilation
A
Kussmaul breathing (diabetic ketoacidosis)
25
Dermatitis, dementia, diarrhea
Pellagra (niacin (B3) deficiency)
26
Dilated cardiomyopathy, edema, polyneuropathy
Wet Beriberi (thiamine (B1) deficiency)
27
Dog or cat bite resulting in infection
Pasteurella multicoda
28
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
29
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (many progress to esophageal squamous cell carcinoma)
30
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (collagen defect)
31
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
32
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical t cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
33
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
34
Fat, female, forty, and fertile
Acute cholelithiasis (bile duct blockage)
35
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
36
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
37
Fever, night sweats, weight loss
B symptoms (lymphoma), TB
38
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
39
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
40
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
41
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jehgers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
42
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
43
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (collagen mutation)
44
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
45
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
46
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome (primary hyperaldosteronism)
47
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis, hyperplasia of mucous cells)
48
Indurated, ulcerated genital lesion (nonpainful)
Chancre (primary syphilis, treponema pallidum)
49
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
50
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori's disease (debranching enzyme deficiency), Von Gierke's
51
Infant with micrognathia, rocker-bottom feet, and structural heart defect
Edward's syndrome (trisomy 18)
52
Jaundice, RUQ pain, fever
Charcot's triad (ascending cholangitis)
53
Keratin pearls on a skin lesion
Squamous cell carcinoma
54
Large rash with bull's eye appearance
Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
55
Lucid interval after traumatic brain injury
Epidural hematoma
56
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
57
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
58
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (genetic disorder, predisposes to colon cancer)
59
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease)
60
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury; waiter's tip)
61
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
62
Nystagmus, intention tremor, scanning speech
Charcot's triad 1 (multiple sclerosis)
63
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
64
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycloplasma pneumoniae, infectious mononucleosis)
65
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
66
Painful, raised red lesions on palms and soles
Osler's nodes (infective endocarditis)
67
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
68
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
69
Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome (MEN I)
70
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centroacinar from smoking, panacinar from alpha1-antitrypsin deficiency)
71
Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl
McCune-Albright syndrome (mosaic G-protein signaling mutation)
72
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
73
Positive anterior "drawer sign"
Anterior cruciate ligament injury
74
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
75
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
76
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
77
Rash on palms and soles
2ry syhilis
| Rocky Mountain spotted fever
78
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
79
Red "currant jelly" sputum
Klebsiella pneumoniae
80
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
81
Red urine in the morning
Paroxysmal nocturnal hemoglobinuria
82
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromacytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
83
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (ningrostriatal dopamine depletion)
84
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's disease (lysosomal glucosidase deficiency)
85
Retinal hemorrhages with pale centers
Roth'sspots (bacterial endocarditis)
86
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
87
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
88
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic inheritance, often progresses to AML)
89
Single palm crease
Simian crease (Down Syndrome)
90
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein defect affecting cilia)
91
Skin hyperpigmentation
Addison's disease (primary adrenocortical insufficiency of autoimmune or infectious etiology)
92
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (x-linked, defective dystrophin, less severe than Duchenne's)
93
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles)
94
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
95
Smooth, flat, moist white lesions on genitals
Condyloma lata (secondary syphilis)
96
Splinter hemorrhages in fingernails
Bacterial endocarditis
97
Strawberry tongue (3)
Scarlet fever, Kawasaki disease, toxic shock syndrome
98
Streak ovaries, congenital heart disease, horseshoe kidney
Turner's syndrome (XO, short stature, webbed neck, lymphedema)
99
Sudden swollen/painful big toe joint, tophi
Gout/podagra
100
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (Vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
101
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP (Bouchard's nodes) and DIP (Heberden's nodes))
102
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
103
Thyroid, parathyroid, adrenal tumors
Sipple's syndrome (MEN 2A)
104
Ulcerated genital lesion with exudate (painful)
Chancroid (Haemophilus ducreyi)
105
Unilateral facial drooping
Bell's palsy (LMN CN VII palsy)
106
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
107
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
108
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Schwartzman reaction (following second exposure to endotoxin)
109
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholics, eating disorders)
110
Waxy casts with very low urine flow
Chronic end-stage renal disease
111
WBC casts in urine
Acute pyelonephritis
112
Weight loss, diarrhea, arthritis, fever, adenopathy
Whippple's disease (Tropheryma whippelii)
113
Worst headache of my life
Sub-arachnoid hemorrhage: Berry aneurysm (associated with adult polycystic kidney disease)
