Classic Presentations EC Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrome (fibrillin defect)
Athlete with polycythemia
secondary to EPO injection
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I colagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (increased osteoblast AND osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
Butterfly facial rash, Raynaud’s phenomenon in a young female
Systemic lupus erythematosus
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnomalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Cafe-aulait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type 1 (pheochromocytoma, optic gliomas)
Calf pseudohypertrophy
Muscular dystrophy (usually Duchene’s): X-linked recessive deletion of dystrophin gene
Cherry-red spot on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Agina (stable:w/ moderate exertion, unstable:w/ minimal exertion)
Chest pain, pericardial effusions/friction rub, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post MI fibrinous pericarditis)
Child uses arms to stand up from squat
Gower’s sign of Duchene’s muscular dystrophy
Child with fever later develops red rash on the face that spreads to the body
“slapped cheeks” (erythema infectiosum: parvovirus B19)
Chorea, Dementia, caudate degeneration
Huntington’s disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF (median longitudinal fasciculus); Bilateral=MS, unilateral=stroke)
Continuous “machinery” like murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave’s disease)
Dark purple skin/mouth nodules
Kaposi’s sarcoma (AIDS): associated with HHV-8
Deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin/vit. B3 deficiency)
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet beriberi (thiamine/vit. 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 SCC)
Elastic skin, hypermobile joints
Ehlers-Danlos syndrome (Type III collagen defect)
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 tapping
Chvostek’s sign (hypocalcemia)
Fat, female forty, and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarish-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 (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in young 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
Puetz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased GI cancer risk)
Pigmented lips/mucosa/hands/feet
Jejunal polyps
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen type IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign +
Upper motor neuron damage