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