Classic Presentations Flashcards
Abdominal pIn, Ascites, Hepatomegaly
Budd Chiari Syndrome- post hepatic venous thrombosis
Achilles tendon xanthoma
Familial Hypercholesterolemia- Dec LEL receptor signaling
Adrenal Hemorrhage, Hypotension, DIC
Waterhouse Friedrichsen syndrome- meningococcemia
Arachnodactyly, lends dislocation, aortic dissection, hyperflexible joints
Marfan Syndrome- fibrillin syndrome
Athlete with polycythemia
secondary to EPO injection
Back pain, fever, night sweats, weight loss
Pott’s disease- vertebral Tb
Bilateral hilar LAD, uvevitis
Sarcoidosis- noncaseating granulomas
blue sclera
Osteogenesis Imperfecta- Type 1 collegen defect
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and raynaud phenomenon in a young female
SLE
Cafe-au - lait spots, Lisch nodules (iris hamartomas)
NFB type 1 + pheochromocytoma + optic gliomas
Cafe-au-lait spots, polycystic fibrous dysplasia, percocious puberty, multiple endocrine abnormalities
McCune- Albright syndrome- mosaic G protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy (normally Duchenne’s): X linked recessive deletion of dystrophin gene
Cherry red spot macula
tay sachs- ganglioside accumulation
Niemann Pick- sphingomyelin accumulation
central retinal artery occlusion
Chest pain on exertion
Angina- stable= with moderate exertion, unstable= minimal exertion.
Chest pain, pericardial effusion/ friction rub, persistent fever following MI
Dressler’s syndrome- AI mediated post MI fibrinous pericarditis 1-12 weeks after an episode
Child uses ams to stand up from squat (Gower’s sign0
Duchenne muscular dystrophy
Child with a fever that later develops red rash on face that spreads to the body
slapped cheeks= erythema infectosum/ fifth disease= parvovirus B19)
Chorea, dementia, caudate degeneration
Huntingdon disease- CAG repeat expansion, AD
Chronic exercise intolerance with myalgia, fatigue, painful cramps, and myoglobinuria
McArdle’s disease= muscle glycogen phosphorylase deficiency
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, Horizontal diplopia
NO- damage to MLF, bilat MS, or unilateral stroke
Continuous machinery heart murmus
PDA- close with indomethacin, open or maintain with misoprostol
Cutaneous/dermal edema due to CT tissue deposition
Myxedema from hypothyroidism, pretibial myxedema= Graves disease
Dark Purple Skin/ Mouth Nodules
Kaposi’s sarcoma, associated with HHV-8, in AIDS
Deep, Labored breathing, hyperventilation
Kussmal breathing- diabetic ketoacidosis
Dermatitis, Dementia, Diarrhea
Pellagra= Niacin/ B3 deficiency
Dilated Cardiomypoathy, edema, alcoholism or malnutrition
Wet Beriberi= Thiamin/ B1 deficiency
Dor or Cat bite resulting in infection
Pasturella multocida- cellulitis at inoculation site
Dry eyes, Dry mouth, arthritis
cant see, can’t spit, can’t climb shit
Sjogrens syndrome- autoimmune destruction of exocrine glands
Dysphagia (esophogeal webs), glossitis, Fe deficiency anemia
Plummer Vinson Syndrome that may progress to esophogeal squamous cell dysmotility
Elastic skin, hypermotibility of joints
Ehlers- Danlos Syndrome- type III collagen defect
enlarged, hard left supraclavicular LN
virchows node- abdominal mets
Erythroderma, LAD, hepatosplenomegaly, atypical T cells
sezary syndrome- cutaenous T cell lymphoma or mycosis fungoides
facial muscle spasm on tapping
Chvostec sign- hypocalcemia
Fat, female, forty, and fetile
risk factors for cholelithiasis (cholesterol gallstones)
Fever, chills, HA, myalgia following antibiotics for syphillis
Jarisch- herxheimer rxn= rapid lysis of spirochetes resulting in toxin release
fever, cough, conjuctivitis, coryza, diffuse rash
Measles (morbillovirus)
Fever, night sweats, weight loss
B symptoms- staging of lymphoma
fibrous plaques in soft tissue of penis
Peyronies disease (CT tissue disorder)
Gout, MR, self mutilating behavior in a boy
Lesh- Nyhan syndrome- HGPRT deficiency- X recessive
Green- yellow rings around peripheral cornea
Kayser Fleisher rings= Cu buildup in Wilson’s disease
Hamartomatous GI pyolyps, hyperpigmentation of mouth/feet/hands
Peutz- Jeger’s syndrome- inherited, benign polyposis that can cause bowel obstruction, inc cancer risk, mostly GI
Hepatosplenomegaly, osteoperosis, neurologic symptoms
Guacher’s disease- glucocerebrosidase deficiency
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome- mutation in alpha chain oc collagen IV
Hyperphasia, Hypersexuality, Hyperorality, Hyperdocility
Kluver- Bucy syndrome- bilateral amygdala lesion