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
Hyperreflexia, hypertonia, babinski’s sign
UMN lesion
Hyporelfexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
COPD- blue bloater, hyperplasia of mucous cells
Indurated, Ulcerated genital lesions
Non painful= primary syphillis, chancre- treponema pallidum
Painful with exudate= Chancroid- Haemophilis ducreyi
Infant with left lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome- trisomy 13
Infant with FTT, hepatosplenomegaly, and neurodegeneration
Niemann Pick disease- genetic sphingomyelinase deficiency
Infant with with hypoglycemia, FTT, and Hepatomegaly
Cori disease- deficiency of debranching enzyme
Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edward syndrome Trisomy 18
Jaundice, palpable, distended, and non tender gall bladder
Courvoisier’s sign- distal obstruction of biliary tree
Large rash with bull’s eye appearance
Erythema Chronicum migrans from ioxdes tick- lyme disease, borellia
Lucide interval after traumatic brain injury
Epidural hematoma- MMA rupture
Male child, recurrent infections, no mature B cells
Bruton’s disease ( X- linked agammabulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzman’s thrombocytopenia- defected in platelet aggregation due to lack of GpIIb/IIIa
Muffled heart sounds, distended neck veins, hypotension
Becks triad of cardiac temponade
Multiple colon polyps, osteomas/ soft tissue tumors, impacted supernumeray teeth
Gardner’s syndrome- subtype of FAP
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease- lysosomal alpha 1,4 glucosidase deficiency
Neonate with arm paralysis following long difficult birth
erb- duchenne palsy- superior trunk C5-C6 brachial plexus injury= waiters tip
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome- pituitary infarction
Nystagmus, intention tremor, scanning speech, bilateral INO
MS
oscillating slow/ fast breathing
Cheyne Stokes respirations- central apnea in CHF or inc ICP
Painful blue fingers/toes, hemolytic anemia
cold agglutinin disease- AI hemolytic anemia caused by M. Pneumonia, or infections mono
Painful, raised red lesions on pads of fingers and toes
Osler’s node- infective endocarditis, immune complex deposition
Painless erythematous lesions on palms and soles
Janeway lesions- infective endocarditis, septic emboli, microabscesses
Painless Jaundice
Cancer of the pancreatic head obstructing the bile duct
Palpable purpura on buttocks/ legs, joint pain, abdominal pain in a child, hematuria
Henoch Schonlein purpura- IgA vasculitis of skin and kidneys
Pancreatic, pituitary, and parathyroid tumors
MEN 1- AD
Periorbital and/ or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hypoventialtion
pink puffer- emphysema.
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconis syndrome- proximal tubular reabsorption defect
Positie anterior drawer sign
ACL injury
Puritic, purple, polygonal, planar papules and plaques- the 6 P’s
Lichen Planus
Ptosis, Miosis, Anhydrosis
Horner’s syndrome- SNS chain lesion
Pupil accommodates, but doesn’t react
Argyll Robertson pupil- neurosyphyllis
Rapidly progressive leg weakness that ascents following GI/ Upper respiratory infections
GBS- Acute Autoimmune inflammatory demylenating polyneuropathy
Rash on Palms and Soles
Coxackie A, secondary syhphilis, Rocky Mountain Spotted fever
Recurrent Colds, unusual eczema, high serum IgE
Hyper IgE syndrome- Job’s Syndrome- neutrophil chemotaxis abnormality
Red “currant jelly” sputum in an alcoholic or diabetic patient
Klebsiella Pneumoniase
Red “currant jelly” stool
Acute mesenteric ischemia- adults
intusssception- intant
Red, itchy, swollen rash or nipple or areola
Paget’s disease of the breast- represents an underlying neoplasm
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemaglobinuria
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von hipple lindau disease- dominant TSG mutation
resting tremor, rigidity, akinesia, postural instability
PD
Retinal hemorrhages with pale centers
roth spots- bacterial endocarditis
Severe Jaundice in Neonate
Crigler- Najjar syndrome congenital uncongigated hyperbilirubinemia
severe RLQ pain with plapation of LLQ
Rovsing’s sign- acute apendicitis
Severe RLQ with rebound tenderness
McBurney’s point- acute appendicitis
Short stature, inc incidence of turmos/ leukemia, aplastic anemia
Fanconi’s anemia- genetic loss of DNA crosslink repair, often progresses to AML
Single Palmar crease
Simian crease- Down Syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
kartagener’s syndrome- dynein arm defect of cilia
skin hyper-pigmentation, hypotension, fatigue
addison’s disease- primary adrenocortical insufficiency causes increase of ACTH and alpha MSH production
slow, progressive muscle weakness in boys
Becker’s muscular dystrophy- X linked missense mutation in dystrophin, less severe than Duchenne’s
small, irregular red spots on buccal/inguinal mucosa with blue-white centers
koplic spots- measles- rubeola virus
smooth, flat, moist, painless white lesions on genitals
condyloma lata, secondary syphilis
splinter hemorrhages in fingernails
bacterial endocarditis
“strawberry tongue”
scarlet fever, kawasaki disease, toxic schock syndrome
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lympedema
Turner syndrome- 45, XO
sudden swollen/ painful big toe joint, tophi
Gout/ Podagra- hyperuricemia
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy- vitamin C defeciency- cant hydroxylate proline and lysine for collagen synthesis
swollen, hard, painful finger joints- PIP AND DIP
Osteoarthritis- osteophytes on PIP (broucahrd’s nodes), DIP (Herberden’s nodes)
Systolic ejection murmur- crescendo/decrescendo
aortic valve stenosis
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A- AD ret mutation
thryroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B- AD ret mutation
Toe extenstion, fanning upon planta scrape
babinski sign- UMN lesion
Unilateral facial drooping involving forehead
facial nerve palsy- LMN CN VII
Urethritis, conjuctivitis, arthritis in male
reactive arthritis assoc with HLA- B27
cant see, cant pee, cant climb a tree
Vascular birthmark (port wine stain)
hemangioma- benign but associated with sturge weber syndrome
vomiting blood following gastroesophogeal lacerations
mallory- weiss syndrome- alcoholic and bulemic patients
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease- Trophyerma whippeli
worst headache of my life
SAH
FEVERSS Fever Erythema Marginatum Valvular damage ESR increase Red hot joints (migratory polyarthritis) Subcutaneous nodules Syndenham's chorea
Rheumatic fever