Clinical Presentations Flashcards
Ab pain, ascites, hepatomegaly
Budd-Chiari syndrome
posthepatic venous thrombosis
Budd-Chiari syndrome
Achilles tendon xanthoma, decrease LDL receptor signaling
Familial hypercholesterolemia
- Adrenal hemorrhage, hypotension, DIC
2. Fulminant meningococcemia
Waterhouse-Friderichsen syndrome
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfans syndrome
Fibrillin-1 defect
marfans syndrome
Athlete with polycythemia
secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s disease
Vertebral TB
Pott’s disease
- Bilateral hilar adenopathy, uveitis
2. non-caseating granulomas
Sarcoidosis
Blue sclera
osteogenesis imperfecta
type I collagen defect
osteogenesis imperfecta
bluish line on gingiva
Burton’s line (lead poisoning)
bone pain, bone enlargement, arthritis
increase osteoblastic and osteoclastic act
Paget’s disease of bone
bounding pulses, diastolic heart murmur, head bobbing
aortic regurg
“butterfly” facial rash, raynaud’s phenomenon in a young female
SLE
cafe-au-lait spot, lisch nodules (iris hamartoma)
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
cafe-au-lait spot, polyostotic fibrous dysplasia, precocious puberty, multi endocrine abnl
McCune-Albright syndrome
mosaic G-protein signaling mutation
McCune-Albright
calf pseudohypertrophy
Duchenne’s muscular dystrophy
x-linked recessive deletion of dystrophin gene
Duchenne’s
“cherry red spot” on macula
Tay-Sachs or Niemann-Pick, central retinal artery occlusion
ganglioside accumulation
Tay-Sachs
sphingomyelin accumulation
Niemann-Pick
chest pain on exertion
angina
stable: w/ exertion
unstable: w/o exertion
chest pain, pericardial effusion/friction rub, persistnat fever follwoing MI
Dressler’s syndrome
Autoimmune(AI)-meditated post-MI fibrinour pericarditits, 1-12 weeks after actue episodes
Dressler’s syndrome
Child w/ fever later devlops rash on face that spreads to body
‘slapped cheek’ (parvovirus B19)
child uses arm to stand up from squat
Duchenne’s muscular dystrophy (Gowers’ sign)
chorea, demenita, caudate degen
Huntington’s
Autosomal dom(AD), CAG repeat expansion
Huntington’s
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdles’ disease
muscle glycogen phosphorylase deficiency
McArdle’s disease
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
- internuclear ophthalmoplegia
- damage to MLF
- bilateral (MS)
- unilateral (stroke)
continuous “ machinery” heart murmur
PDA
close with indomethacin
open/maintaine with misoprostol
PDA
cutaneous/dermal edema d/t CT deposition
myxedema
myxedema is associated with…
hypothyroidism, Grave’s disease (pretibial)
dark purple skin/mouth nodules
Kaposi sarcoma (HHV-80
deep, labored breathing/hypervent
Kussmaul breathing
kussmaul breathing is usually found with
DKA
dermatitis, dementia, diarrhea
pellagra
what is pellagra
vit B3 (niacin) deficiency
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi
what is wet beriberi
vit B1 (thiamine) deficiency
dog or cat bite
pasteurella multocida
what is found at site of bite infected by pasteurella multocida
cellulitis
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
what can plummer-vinson turn into
squamous cell carcinome
dry eyes, dry mouth, arthritis
Sjogrens syndrome
what is sjogrens syndrome
AI destruction of exocrine glands
elastic skin, hypermobility of joints
Ehler-Danlos syndrome (type III defect)
enlarged, hard left supraventricular nodde
Virchows node
ab mets
erythroderma, lymphadenopathy, hepatosplenomegaly, atpyical T cells
Sezary syndrome, mycosis fungoides
what is sezary syndrome
cutaneous T cell lymphoma
facial muscle spasm upon tapping
chvostek’s sign
hypocalcemia
fat, female, forty, fertile
cholelithiasis
fever, chills, headache, myalgia following antibiootic treatment for syphilis
Jarisch-Herxheimer reaction
what is Jarisch-Herxheimer reaction
rapid lysis of spirochetes results in toxin release
fever, cough, conjunctivitis, coryza, diffuse rash
measles
fever, night sweats, weight loss
B symptoms of lymphoma
fibrous plaques in soft tissue of penis
peyronie’s diesase
CT disorder
gout, mental retardation, self-mutilating behavoir in boy
Lesch-Nyhan syndrome
what is Lesch-Nyhan syndrome
HGPRT deficiency, X-linked recessive
green-yellow rings around peripheral cornea
Kayser-fleisher rings
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
inherited, benign polyposis can cause bowel obstruction
increase risk in cancer-GI
Peutz-Jeghers syndrome
hepatosplenomegaly, osteoporsis, neurologic symptoms
Gaucher’s disease
glucocerebrosidase deficicency
Gaucher’s disease
hereditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (collagen IV)
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
bilateral amygdala lesions
Kluver-Bucy syndrome
hyperreflexia, hypertonia, Babinski sign present
UMN damage
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
hypoxemia, polcythemia, hypercapnia
“blue bloater”
what is “blue bloater”
chronic bronchitits; hyperplasia of mucous cells
indurated, ulcerated genital lesion, nonpainful
primary syph - chancre
indurated, ulcerated genital lesion, painful, exudate
haemophilus ducreyi - chancroid
infant with cleft lip/palate, microceph or holoceph, polydactyly, cutis aplasia
Patau’s syndrome
trisomy 13
infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease
sphingomyelinase deficeincy
infant with hypoglycemia, failure to thrive, hepatomegaly
Cori’s disease
debranching enzyme deficiency
infant with microceph, rocker-bottom feet, clenched hands, and structal heart defect
Edward’s syndrome (trisomy 18)
jaundice, palpable distended non-tender gallbladder
Courvoisier’s sign
distal obstruction of biliary tree
Courvoisier’s sign
large rash, bull’s eye
lyme disease - borrelia
(erythema chronicum migrans
lucid interval after traumatic brain injury
epidural hematoma
middle meningeal artery rupture
epidural hematoma
male child, recurrent infections, no mature B cells
Brutons disease
mucosal bleeding and prolonged bleeding time
Glanzmanns thrombasthenia
glanzmanns thrombasthenia
defect in platelet aggregation d/t lack of GpIIb/IIIa
muffuled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeray teeth
Gardner’s syndrome
type of FAP
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
pompe’s disease
lysosomal alpha 1,4-glucosidase deficiency
pompe’s disease
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
superior trunk C5-C6 brachial plexus injury: waiter’s tip
Erb-Duchenne palsy
no lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome
pituitary infarction
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
oscillating slow/fast breathing
Cheyne-Stokes respirations
central apnea in CHF or increase ICP
Cheyne-Stokes respirations
painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
AI hemolytic anemia caused by mycoplasma pneumoniae, infectious mono
Cold agglutinin disease
painful, pale, cold fingers/toes
Raynauds phenomenon
vasospams in extremities
painful, raised red lesions on pad of fingers/toes
osler’s nodes
immune complex deposition
osler’s nodes found in…
infective endocarditis
painless erythematous lesions on palms and soles
Janeway lesions
septic emboli/microabscess
janeway lesions found in …
infective endocarditis
painless jaundice
cancer of pancreatic head obstructing bile duct
palpable purpura on buttocks/legs, joint pain, ab pain (child), hematuria
henoch-schonlein purpura
IgA vasculitis affecting skin and kidenys
henoch-schonlein purpura
pancreatic, pituitary, parathyroid tumors
MEN1
autosomal dom
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
“pink puffer”
what is “pink puffer”
emphysema: centriacinar (smoking), pancinar (alpha1-antitrypsin deficiency)
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome
what’s the defect in Fanconi’s syndrome
proximal tubular reabsorption defect
positive anterior “drawer sign”
ACL injury
pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
ptosis, miosis, anhidrosis
Horner’s syndrome
sympathetic chain lesion
pupil accommodates but doesnt react
Argyll Robertson pupil
neurosyphilis
rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barre syndrome
what is Guillain-Barre syndrome
acute AI inflammatory demyelinating polyneuropathy
rash on palms and soles
- coxsackie A
- secondary syphilis
- 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 alcoholic or diabetic pts
klebsiella pneumoniae
Red “currant jelly” stools
acute mesenteric ischemia (adults)
intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget’s disease of breast
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau diesase
what mutation occurs in von Hippel-Lindau disease
dominant tumor suppressor gene mutation
resting tremor, rigidity, akinesia, postural instabiliy
Parkinson’s disease
nigrostriatal dopamine depletion
retinal hemorrhages with pale centers
Roth’s spots
roth’s spots are found in…
bacterical endocarditits
severe jaundice in neonate
Crigler-Najjar syndrome
what is Crigler-Najjar syndrome
congential unconjugated hyperbilirubinemia
severe RLQ pain with palpation of LLQ (the special test)
rovsing’s sign
acute appendicitis
severe RLQ pain with rebound tenderness (the special test)
McBurney’s sign
appendicitis
short stature, increase incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia
what is Fanconi’s anemia
genetic loss of DNA crosslink repair; often progresses to AML
single palmar crease
Down syndrome
simian crease
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome
skin hyperpigmentation, hypotension, fatigue
Addison’s disease
what is Addison’s disease
primary adrenocortical insuff causes increase in ACTH and alpha-MSH
slow, progressive muscle weakness in boys
Becker’s muscular dystrophy
what is Becker’s muscular dystrohy
x-linked missense mutation in dystrophin
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik Spots
measles; rubeola virus
smooth, flat, moist, painless white lesion on genitals
condylomata lata
sec syphilis
splinter hemorrhages in fingernails
bacterial endocarditis
“strawberry tongue”
scarlett fever, kawasaki disease, TSS
streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
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
what is scruvy
vit c deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
swollen, hard, painful finger joints
osteoarthritis
(PIP-Bouchard’s)
(DIP-Heberden’s)
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
AD ret mutation
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
AD ret mutation
toe extension/fanning upon plantar scrape
Babinski sign
UMN lesion
unilateral facial drooping involving forehead
facial nerve
LMN CN VII palsy
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
vascular birthmark (port-wine stain)
Hemangioma
benign, but assocaited with Sturge-Weber syndrome
vomiting blood following gastroesophageal lacerations
Mallory-weiss syndrome
alcoholic and bulimic pt
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s diesase
Tropheryma whipplei
“worst headache of my life”
subarachnoid hemorrhage