Classic presentation Flashcards
abdominal pain ascites hepatomegaly
budd chiari syndrome - post hepatic venous thrombosis
achilles tendon xanthoma
familial hypercholesterolemian dec LDL R signaling
adrenal hemorrhage- hypotension-DIC
waterhouse-friderichsen syndrome- meningococcemia
arachnodactylyl lens dislocation- aortic dissection- hyperflexable joints
marfans syndrome -fibrillin defect
athlete w polycthemia
secondary to erythropoietin injection
back pain fever night sweats weight loss
potts disease -vertebral tuberculosis
bilateral hilar adenopathy- uveitis
sarcoidosis- noncaseating granulomas
blue sclera
osteogenesis imperfecta type 1 collagen defect
bluish line on gingiva
burtons line -lead poisoning
bone pain- bone enlargement- arthritis
pagets disease of the bone- increase osteoblastic & osteoclastic activity
bounding pulses, diastolic heart murmur- head bobbing
aortic regurg
butterfly facial rash, Raynouds phenomenon in young female-
SLE
cafe au laits spots - lisch nodules- iris hamartoma-
Neurofibromatosis type 1- pheochromocytoma- optic gliomas
cafe au lait spots - polyostotic fibrous dysplasia precocious puberty, multiple endocrine abnormalities
McCune albright syndrome- mosaic G protein signaling mutation
calf pseudohypertrophy
muscular dystrophy most commonly Duchenne’s- Xlinked-Recessive deletion of dystrophin gene
cherry red spot on macula
tay-sachs- ganglioside accumulation or niemann pick spningomyelin accumulation- central retinal A occlusion.
chest pain on exertion
angina- stable with moderate exertion, unstable with minimal exertion.
chest pain pericardial effusion/friction rub -persistant fever following MI
Dresslers syndrome- autoimmune-mediated post MI fibrinous pericarditis, 1-2 weeks after acute episode.
child uses arms to stand up from squat
gowers sign- duschenne muscular dystrophy
child w fever later develops red rash on face that spreads to body
slapped cheeks- eryethema infectiousum-5ths disease parovirus B19
chorea, dementia, cuadate degeneration
huntingtons disease- AD CAG repeat expansion
chronic exercise intolerance with myalgia fatique painful cramps myoglobinuria-
McArdles disease- muscle glycogen phosphorylase deficiency.
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia- damage to MLF- b/l MS or if unilateral from a stroke
continuous machinery heart murmur
PDA Closes with indomethacin -open or maintain w. misoprostol
cutaneous dermal edema due to CT deposition
myxedema caued by hypothyroidism, graves diseases- pretibial
dark purple skin/mouth nodules
kaposies sarcoma- usually AIDS pts MSM- associated w HHV8
deep labored breathing hyperventilation
kussmauls breathing diabetic ketoacidosis
dermatitis dementia diarrhea
pellagra - niacin(VitB3) deficiency
dilated cardiomyopathy- edema- alcholism or malnutrition
wet. beriberi- thiamin(Vit B1) deficiency
dog or cate bite results in infection
pasteurella multocida- cellulitis @ inoculation site
dry eyes, dry mouth arthritis-
sjorgrens syndrome- Autoimmune destruction of exocrine glands
dysphagia-esophageal webs- glossitis, iron deficiency anemia
plummer-vinsons syndrome- progress to esophageal squamous cell carcinoma
elastic skin- hypermobility of joints
ehlers Danlos syndrome- type 3 collagen defect
enlarged, hard left supraclavicular node
virchows node - abdominal mets
erythroderma- lymphadenopathy- hepatosplenomegaly- atypical T cells
Sezary syndrome- cutaneous T cell lymphoma or mycosis fungiodes
facial muscle spasms on tapping
chvosteks sign- hypocalcemia
fat female forty and fertile
cholelithiasis- gall stones
fever chills HA myalgia following abx tx for syphilis
Jarisch herxheimer rxn- 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
peyronies disease- CT disorder.
gout mental retardation, self mutilating behavior in a BOY
Lesch- Nyhan syndrome- HGPRT def, X linked recessiv
green yellow rings around peripheral cornea
kayser fleischer rings- CU accumulation from wilsons disease
Hamartomatous GI polyps hyperpigmentation of mouth feet and hands
peutz jeghers syndrome inherited bening polyposis can cause bowel obstruction and increase in cancer risk mainly GI
Hepatosplenomegaly osteoporosis neurologic symptoms
gauchers disease glucocerebrosidase deficiency
hereditary nephritis sensorineural hearing loss cataracts
alport syndrome- mutation in alpha chain of collagen IV
hyperphagia, hypersexuality, hyperorality hyperdocility
kluver bucy syndrome- bilateral amygdala lesion.
hyperflexia hypertonia bainski sign present
UMN damage
hyperflexia hypotonia atrophy fasciculation
LMN damage
hypoxemia polycythemia, hypercapnia
Blue bloater- chronic bronchitis, hyperplasia of mucous cells
indurated ulcerated genital lesions
nonpainful- chancre- 1 syphilis Treponema pllidum. painful w/ exudae chancroid- haemophilus ducreyi
infant w cleft lip/ palate microcephaly or holoprosencephaly, polydactyly, cutis aplasia
patau’s syndrome - trisomy 13
infant w failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann picks disease - genetic sphingomyelinase deficiency
infants with hypoglycemia, failure to thrive and hepatomegaly
Coris disease- debranching enzyme deficiency
infants with microcephaly rocker bottom feet clenched hands and structural heart defect.
edwards syndrome- trisomy 18
jaundice palpable distended non-tender gallbladder
courvoisiers sign- distal obstruction of biliary tree
large rash with bulls eye appearannce
erythema chronicum migrans from Ixodes tick bite- lime disease Borrelia
lucid interval after traumatic brain injury
epidural hematoma- middle minengeal A Rupture
male child recurrent infections no mature B cells
brutons disease X linked agammaglobulinemia
mucosal bleeding and prolonged bleeding time
Glanzmanns thrombasthenia- defect in plt aggregation due to lack of GP2b/3a
muffled heart sounds, distended neck veins, hypotension
becks triad of cardiac temponade
multiple colon polyps- osteomas/soft tissue tumor, impacted supernumerary teeth
gardners syndrome- subtype of FAP
myopathy infantile hypertrophic cardiomyopathy exercise intolerance
pompe’s disease- lysosomal alpha 1-4 glucosidase deficiency
neonate w arm paralysis following difficult birth
Erb- duchenne palsy- superior trunk- C5-C6 brachial plexus injury- waitors tip
no lactation postpartum, absent menstruation, cold intolerance
Sheehans sundrome pituitary infarcation.
nystagmus intention tremore, scanning speech bilateral Internuclear opthalmoplegia
multiple sclerosis
oscillating slow/fast breathing
cheyne stokes respiration- central apnea in CHF or increased ICP
painful blue fingers toes, hemolytic anemia
cold agglutinin disease autoimmune hemoltic anemia caused by mycoplasma pneumoniae, infectious mononucleosis
painful pale cold finger toes
raynauds phenomenon- vasospasms in extremities
painful raised red lesions of pads of fingers/toes
oslers node- infective endocarditis immune complex deposition
painless erythematous lesions on palms and soles
janeways lesions- infective endocarditis, septic emboli, microabscesses
painless jaundice
cancer of pancreatic head obstructing bile duct
palpable purpura on buttocks legs joint pain, abdominal pain child, hematuria.
henoch schonlein purpura- IgA vasculitis affecting skin and kidneys
pancreatic pituitary parathyroid tumors
MEN 1 AD
periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
pink puffer- emphysema-centriacinar-smoking– panacinar - alpha1 antitrypsin deficiency
polyuria renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
fanconis syndrome- Proximal tubular reabsorption defect.
posterior anterior drawer sign
anterior cruciate ligament injury
pruritic purple, polygonal planar papules and plaques- 6 Ps
lichen planus
ptosis miosis anhidrosis
horners syndrome- sympathetic chain lesions
pupil accomodates but doesnt react
argyll robertson pupil - neurosyphilis
rapidly progressive leg weakness that ascends following GI URT infection
guillains barre syndrome- acute autoimmune inflam. demyelinating polyneuropathy
rash on palms and soles
cox A, 2 syphilis, rocky mountain spotted fever
recurrent colds, unusual eczema high serum IgE
hyper-IgE syndrome - jobs syndrome- neutrophil chemotaxis abnormality
red currant jelly sputum in alcoholic or diabetic pts
Klebsiella pneumoniae
red currant jelly stools
acute mesenteric ischemia adults, intussusception- infants
red itchy swollen rash on nipple/areola
pagets disease of the breast represents underlying neoplasm
red urine in the morning fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma-b/l hemangioblastomas, angiomatosis-pheochromocytoma
von hippel-lindaus disease- Dominant tumor suppressor gene mutation
resting tremor rigidity, akinesia, postural instability
parkinsons disease-nigrostriatal dopamine depletion
retinal hemorrhages with pale centers
roths spots- bacterial endocarditis
severe jaundice in neonate
criglers najjar syndrome- congenital unconjugated hyperbilirubinemia
severe RLQ pain with palpation of LLQ
rovsing sign- acute appendicitis
Severe RLQ pain w rebound tenderness
mcburneys sign- appendicitis
short stature, increase tumors leukemia, aplastic anemia
fanconi’s anemia- genetic loss of DNA crosslink repair- often progress to AML
Single palmar crease
Simian crease-down syndrome-
situs inversus, chronic sinusitis, bronchiectasis, infertility
kartageners syndrome- dynein arm defect affecting cilia
skin hyperpigmentation, hypotension fatigue
addisons disease primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
slow progressive muscle weakness in boys
beckers muscular dystrophy- X linked missense mutation in dystrophin, less severe than duchenne’s
small irregular red spots on buccal lingual mucosa with blue white centers
koplik spots- measles- rubeola virus
smooth flat moist painless white lesions on genitals
condylomata lata- secondary syphilis
splinter hemorrhages in fingernails
bacterial endocarditis
strawberry tongue
scarlet fever, kawasaki disease toxic shock syndrome
streak ovaries, congenital heart disease horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turners syndrome 45 XO
sudden swollen painful big toe joint tophi
gout podagra- hyperuricemia
swollen gums mucosal bleeding - poor wound healing spots on skin.
scurvy- vit C def -cant hydroxylate proline and lysine for collagen synthesis
swollen hard painful finger joints
osteoarthritis- osteophytes on PIP-bouchards nodes and DIP heberdens nodes
systolic ejection murmor- crescendo-decrescendo
aortic valve stenosis
thyroid and parathyroid tumors- pheochronocytoma
MEN2A- autosomal dominant RET mutation
Thyroid Tumors, ganglioneuromatosis
MEN2B autosomal dominent RET mutation
toe extension- fanning upon plantar scrape
babinski sign- UMN lesions
unilateral facial drooping involves the forehead
facial nerve LMN CN 7 palsy
urethritis conjunctivitis arthritis in a male-
reactive arthritis associated with HLA-B27
Vascular birthmark- port wine stain
hemangioma - benign but associated with sturge weber syndrome
vomiting blood following Gastroesophageal laceration
mallory-weiss syndrome- alcoholic or bulimic pts.
weight loss diarrhea, arthritis, fever adenopathy
whipples disease – tropheryma whipplei
worst headache of my life
subarachnoid hemorrhage.
