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First Aid 2011

Classic Presentations

QuestionAnswer
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
Created by: spud5892
 

 



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