classic presentations Flashcards
abdominal pain, ascites hepatosplenomegaly
budd-chiari
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
clostridium dificile
achilles tendon xanthoma
familial hypercholesterolemia
adrenal hemmorrhage, hypotension DIC
waterhouse-friderichsen syndrome (meningococcemia)
anaphylaxis following blood transfusion
IgA deficiency
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
marfan syndrome
back pain, fever, night sweats
vertebral TB (Potts)
bilateral acoustic schawnomas,
NF2, chrom 22
black eschar on face of patient with DKA
mucor or rhizopus fungal infection
blue sclera
osteogenesis imperfecta (type I collagen defect)
bluish line on gingiva
lead poisioning, (burton line)
bone pain, bone enlargement, arthritis
paget disease of bone (increase osteoclastic first then osteoblastic activity)
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
butterfly facial rash, raynaud’s in young women
SLE
cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF1 chrom 17
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endorine abnormalities
Mccune-albright syndrome (mosaic G-protein signaling mutation)
calf pseudohypertrophy
muscular dystrophy (most common=Duchenne, due to X-linked, recessive frameshift mutation of dystrophin
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctive and tongue, hand/foot changes
Kawasaki (txt with IVIG and aspirin)
Cherry red spots on macula
Tay- Sachs: ganglioside accumulation
Niemann Pick: sphingomyelin accumulation
central retinal artery occlusion
chest pain on exertion
angina
chest pain, pericardial effusion/friction rub, persistent fever following MI
dressler syndrome: autoimmune mediated post-MI fibrinous pericarditis, 2 weeks to several months post MI
child uses arm to stand up from squat
duchenne muscular dystropher (gower sign)
child with fever later develops red rash on face that spreads to body
Parvovirus B19, (erythema infectiosum)
chorea, dementia, caudate degradation
Huntington disea
AD, CAG repeat
chorioretinitis, hypocephalus, intracranial calcification
congenital toxoplasmosis
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
cold intolerance
hypothyroidism
conjugate horizontal gaze palsy, horizontal diplopia
internuclear ophthalmolplegia (damage to MLF)
cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, increase 5-HiAA)
dark purple skin/mouth nodules in pateint with AIDS
Kaposi Sarcoma, HHV-8
deep labored breathing/hyperventilation
DKA, (kussmal respirations)
dermatitis, dementia, diarrhea,
niacin, vitamin B3 deficiency
dilated cardiomyopathy, edema, alcoholism, malnutrition
wet beriberi (thiamine, (B1) deficiency)
dog or cat bite resulting in infection
pastuerella multocida
dry eyes, dry mouth arthritis
Sjogren syndrome, autoimmune destruction of exocrine glands
dysphagia, glossitis, iron deficiency anemia
plummer-vinson syndrome (may progress to SCC or esophagus)
enlarged hard left supraclavicular node
virchow node (abdominal metastasis)
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome: mycosis fungoides+ malignant T cells in the blood
facial muscles spasm upon tapping
Chvostek sign in hypocalcemia
fat, female, forty and fertile
cholelithiasis
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
fever, cough, conjunctivitis, coryza, diffuse rash
measles
golden brown rings in peripheral cornea
wilson disease (kayser-fleischer rings due to copper accumulation)
gout, intellectual disability, self mutilating behavior in a boy
lesch-nyhan (HGPRT deficiency), X-linked recessive
hamartomatous GI polyps, hyperpigmentaiton of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis, can cause bowel obstruction; increase cancer risk, mainly GI)
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
gaucher disease (glucocerebrosidase deficiency)
hereditary nephritis, sensorinerual hearing loss
alport syndrome (collage IV mutation)
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy; bilateral amygdala lesion
hyperreflexia, hypertonia, Babinski sign
UMN
hyporeflexia, hypotonia, atrophy, fasiculations
LMN
hypoxemia, polycythemia, hypercapnia
chronic bronchitis
indurated, ulcerated genital lesion
non painful: primary syphilis
painful, with exudate: chancroid
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
trisomy 13 (Patau)
infant with hypoglycemia, hepatomegaly
core disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
trisomy 18 (edwards)
jaundice palpable distended, non tender gallbladder
courvoisier sign: distal malignant obstruction of biliary tree
large rash with bull’s eye appearance
erythema chronicum migrans from ixodes tick: Borrelia
lucid interval after traumatic brain injury
epidural hematoma
male child recurrent infections, no mature B cells
X-linked agammaglobulinemia (bruton disease)
mucosal bleeding and prolonged bleeding time
glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
muffled heart sounds, distended neck veins, hypotensison
beck triad of cardiac tamponade
multiple colon polyps, osteomas/soft tissue tumors, impacted supernummerary teeth
gardner syndrome (subtype of FAP)
myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
pompe disease (lysosomal a-1,4 glucosidase deficiency
neonate with arm paralysis following birth
erb-duchenne palsy (C5-C6)
no lactation postpartum, absent menstruation, cold intolerance
sheehan syndrome: pituitary infarction
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
painful blue fingers/toes, hemolytic anemia
cold agglutitnin disease ( autoimmune, hemolytic anemia cuased by mycoplasma pneumoniae, infectious mononucleosis, CLL)
painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
painful, raised red lesions on pads or fingers/toes
osler nodes (infective endocarditis, IC depostition)
painless erythematous lesions on palms and soles
janeway lesions (infective endocarditis, septic emboli/microabsecesses)
painless jaundice
cancer fo the pancreatic head obstruction bile duct
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
HSP (IgA vasculitis affectin skin and kidneys)
pancreatic, pituitary, parathyroid tumors
MEN 1
periorbital and peripheral edema, protenuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophophastemic rickets
fanconi syndrome (multiple compbined dysfunction of PCT)
pruritic, purple, polygonal planar papules
Lichen planus
ptosis, miosis, anhidrosis
horner syndrome
pupil accommodates but doesn’t react
neurosyphilis (argyll robertson pupil)
rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre (acute inflammatory demyelinating polyradiculopathy subtype)
rash on palms and soles
Coxackie A, secondary syphilis, Rocky mountain spotted fever
recurrent cold abscesses, unusual eczema, high serum IgE
hyper-IgE, neutrophil chemotaxis abnormality
red currant jelly sputum in alcoholic or diabetic patients
Kelbsiella pneumonia
red currant jelly stools
acute mesenteric ischemia, intussusception
red, itchy, swollen rash of nipple/areola
paget disease of the breast (sign of underlying neoplasm)
red urine in the morning, fragile RBCS
paroxysmal nocturnal hemoglobinuria
RCC, hemangioblastomas, angiomatosis, pheochromocytoma
Von-hippel-lindau disease (dominant tumor suppressor gene mutation)
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
retinal hemorrhage with pale centers
Roth spots (bacterial endocarditis)
sever jaundice in neonate
crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)
severe RLQ pain with palpation of LLQ
rovsing sign (acute appendicitis)
sever RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
single palmar crease
down syndrome
situs inversus, chronic sinusitis, bronchiectasis
kartagener syndrome (dyenin arm defect affecting cilia)
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency causes increased ACTH and increased MSH
slwo progressive muscle weakness in boys
Becker muscle dystrophy (x-linked missense mutation in dystrophin, less sever than duchenne)
small, irregular red spots on buccal/lingual mucosa with blue-white centers
koplik spots (measles (rubeola) virus)
smotth moist painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
splinter hemorrhages in fingernails
bacterial endocarditis
strawberry tongue
scarlet fever, Kawasaki disease
streak ovaries, congenital heart disease, horshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turner syndrome
sudden swollen/painful big toe joint tophi
gout/podagra (hyperuricemia)
swollen gums, mucosal bleeding, poor wound healing
scurvy, vit C definciency, can’t hydroxylate prolin/lysine for collagen synthesis
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP, DIP)
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
osler-weber-rendu syndrome
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
toe extension/fanning upon plantar scrape
Babinski sign (UMN)
unilateral facial drooping involving forehead
LMN facial nerve (CNVII) palsy; UMN lesions spare the forehead
urethritis, conjuncitivitis, arthritis in male
reactive arthritis associated with HLA-B27
vascular birthmark (port-wine stain) of the face
nevus flammeus (benign, but associated with Sturge-weber)
vomiting blood follwing gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic patients)
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease (tropheryma whipplei)
worst headache of my life
subarachnoid hemorrhage
