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RR Classic Pres D1
Classic Presentations Day 1
| Question | Answer |
|---|---|
| abdominal pain, ascites, hepatomegaly | budd-chiari syndrome |
| achilles tendon xanthoma | familial hypercholesterolemia |
| adrenal hemorrhage, hypotension, DIC | waterhouse-friedrichsen syndrome (meningococcemia) |
| arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's syndrome (fibrillin defect) |
| Athlete with polycythemia | Erythropoietin injection |
| Back pain, fever, night sweats, weight loss | pott's disease (vertebral tb) |
| bilateral hilar adenopathy, uveitis | sarcoidosis (non-caseating granulomas) |
| blue sclera | osteogenesis imperfecta (type 1 collagen defect) |
| bluish line on gingiva | burton's line (lead poisoning) |
| bone pain, bone enlargement, arthritis | paget's disease of bone |
| bounding pulses, diastolic heart murmur, head bobbing | aortic regurgitation |
| cafe-au-lait spots, lisch nodules (iris hamartoma) | Neurofibromatosis type I (+ pheo, optic gliomas) Neurofibromatosis type II (+ bilateral acoustic neuromas) |
| cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty | McCune-Albright syndrome |
| calf pseudohypertrophy | muscular dystrophy (MC-ly duchenne's) |
| cherry red spot on macula | tay-sachs, niemann-pick (cherry picking disease!), central retinal a occlusion |
| chest pain, pericardial effusion/frction rub, persistent fever following MI | dressler's syndrome (autoimmune mediated; 1-12 weeks post-acute MI) |
| child uses arms to stand up from squat | gower's sign (duchenne) |
| child with fever develops red rash on face that spreads to body | slapped cheeks; erythema infectiosum/fifth disease; parvovirus b19 |
| chorea, dementia, caudate degeneration | huntington's disease (CAG repeats) |
| chronic exercise intolerance with myalgia, fatigue, and painful cramps | mcardle's disease (msucle phosphorylase deficiency) |
| cold intolerance | hypothyroidism |
| conjugate lateral gaze palsy, horizontal diplopia | internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke]) |
| continuous machinery heart murmur | pda (close with indomethacin, keep open with misoprostol=prostaglandin) |
| cutaneous/dermal edema due to CT deposition | myxedema (hypothyroidism, Graves [pretibial myxedema]) |
| dark purple skin/mouth nodules | kaposi's sarcoma |
| deep, labored breathing/hyperventilation | kussmaul's breathing (diabetic ketoacidosis; compensatory mechanism to correct acidosis of DKA) |
| dermatitis, dementia, diarrhea | pellagra (niacin/b3 deficiency) |
| dilated cardiomyopathy, edema, polyneuropathy | wet beri beri (thiamine/b1 deficiency) |
| dog or cat bite resulting in infection | pasturella 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 SCC) |
| elastic skin, hypermobility of joints | ehler's danlos syndrome (type III collagen defect) |
| enlarged, hard, L suprclavicular node | virchow's node (gi malignancy metastasis) |
| erythroderma (red skin), lymphadenopathy, hepatosplenomegaly, atypical T cells | sezary dyndrome (cutaneous t cell lymphoma) or mycosis fungoides |
| facial m spasm upon tapping | chvostek's 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 toxin release) |
| fever, cough, conjunctivitis, coryza, diffuse rash | measles (morbillivirus) |
| fever, night sweats, weight loss | b symptoms (lymphoma) and TB |
| fibrous plaques in soft tissue of penis | peyronie's disease (CT disorder) |
| gout, metnal retardation, self-mutilating behavior in a boy | lesch-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; increased cancer risk) |
| hepatosplenomegaly, osteoporosis, neuro symptoms | gaugher's disease (glucocerebrosidase deficiency; wrinkled tissue paper cytoplasm) |
| hereditary nephritis, sensorineural hearing loss, cataracts | alport's syndrome (type IV collagen mutation); can't see, can't pee, can't hear |
| hypercoagulability (leading to migrating dvts and vasculitis) | trousseau's sign (adenocarcinoma of pancreas or lung) |
| hyperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion); think of Gary Busey |
| hypertension, hypokalemia, metabolic acidosis | conn's syndrome (primary hyperaldosteronism) |
| hypoxemia, polycythemia, hypercapnia | blue bloater (chronic bronchitis: hyperplasia of mucus cells) |
| indurated, non-painful ulcerated genital lesion | chancre (primary syphilis; treponema pallidum) |
| indurated, painful ulcerated genital lesion with exudate | chancroid (haemophilus ducreyi) |