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First Aid 2011
Classic Presentations
Question | Answer |
---|---|
Abdominal pain, ascites, hepatomegaly | Budd-chiari syndrome (posthepatic venous thrombosis) |
Achilles tendon xanthoma | Familial hypercholesterolemia |
Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's syndrome (fibrillin defect) |
Athlete w/ polycythemia | Erythropoietin injection |
Back pain, fever, night sweats, weight loss | Pott's disease (vertebral TB) |
Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas) |
Blue sclera | Osteogenesis Imperfecta (collagen defect) |
Bluish line on gingiva | Burton's line (lead poisoning) |
Bone pain, bone enlargement, arthritis | Paget's disease (increased osteoblastic and osteoclastic activity) |
Bounding pulses, diastolic heart murmur, head bobbing | Aortic regurgitation |
Cafe-au-lait spots, Lisch nodules (iris hamartoma) | Neurofibromatosis type I (+pheochromocytoma, optic gliomas) Neurfibromatosis type II (+bilateral acoustic neuromas) |
Cafe-au-lait sopts, polyostotic fibrous dysplasia, precocious puberty | McCune-Albright syndrome (mosaic G-protein signaling mutation) |
Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne's) |
"Cherry-red spot" on macula | Tay-Sachs (ganglioside accumulation or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode) |
Child uses arms to stand up from squat | Gowers' sign (Duchenne's MD: X-linked recessive deleted dystrophin gene) |
Chorea, dementia, caudate degeneration | Huntington's disease (autosomal-dominant CAG repeat expansion) |
Child with fever develops red rash on face that spreads to body | "slapped cheek" (erythematous infectiosum/fifth disease: parvovirus B19) |
Chronic exercise intolerance with myalgia, fatigue, painful cramps | McArdle's disease (muscle glycogen phosphorylase deficiency) |
Cold intolerance | Hypothyroidism |
Conjugate lateral gaze palsy, horizontal diplopia | Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]) |
Continuous "machinery" heart murmur | Patent Ductus Arteriosus (close with indomethicin; open with misoprostol) |
Cutaneous/dermal edema due to connective tissue deposition | Myxedema (hypothyroidism, Graves' disease) |
Dark purple skin/mouth nodules | Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8) |
Deep labored breathing/hyperventilation | Kussmaul breathing (diabetic ketoacidosis) |
Dermatitis, dementia, diarrhea | Pallagra (niacin [vitamin B3] deficiency) |
Dilated cariomyopathy, edema, polyneuropathy | Wet beriberi (thaimine [vitamin B1] deficiency) |
Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis at inoculation site) |
Dry eyes, dry mouth, arthritis | Sjogren's syndrome (autoimmune destruction of exocrine glands) |
Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma) |
Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (collagen defect, usually type III) |
Enlarged, hard left supraclavicular node | Virchow's node (abdominal metastasis) |
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides |
Facial muscle spasm upon tappine | Chovstek sign (hypocalcemia) |
Fat, female, forty, and fertile | Acute cholelithiasis (bile duct blockage) |
Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release) |
fever, cough, conjunctivitis, coryza, diffuse rash | Measels (Morbillivirus) |
Fever, night sweats, weight loss | B symptoms (lymphoma) |
Fibrous plaques in soft tissue of penis | Peyronie's disease (connective tissue disorder) |
Gout, mental retardation, self-mutilating behavior in a boy | Lesh-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
Green-Yellow rings around peripheral cornea | Kayser-Fleischer rings (copper accumulation from Wilson's disease) |
Hamartomatous GI polyps, Hyperpigmentation of mouth/feet/hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk) |
Hepatosplenomegaly, ostoporosis, neurologic symptoms | Gaucher's disease (glucocerebrosidase deficiency) |
Hereditary nephritis, sensorineural hearing loss, cataracts | Alport's syndrome (type IV collagen mutation) |
Hypercoagulability (leading to migrating DVTs and vasculitis) | Trousseau's sign (adenocarcinoma of pancreas or lung) |
Heperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion) |
Hypertension, hypokalemia, metabolic alkylosis | Conn's syndrome |
Hypoxemia, polycythemia, hypercapnia | "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
Indurated, ulcerated genital lesion | Nonpainful: Chancre (Primary syphylis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi) |
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | Niemann-Pick disease (genetic sphingomyelinase deficiency) |
Infant with hypoglycemia, failure to thrive, and hepatomegaly | Cori's disease (debranching enzyme deficiency) |
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | Edward's syndrome (trisomy 18) |
Neonate with arm paralysis following difficult birth | Erb-Duchenne Palsy (superior trunk [c5-c6] brachial plexus injury: "waiter's tip") |
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | Pompe's disease (lysosomal glucosidase deficiency) |
Situs inversus, chronic sinusitis, bronchiectasis | Kartagener's syndrome (dynein defect affecting cilia) |
Slow, progressive muscle weakness in boys | Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's) |
Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
Swollen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
Increased uric acid levels | Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop/thiazide diuretics |