FA: Rapid Review 2 Flashcards
Infant with hyopglycemia, FTT and hepatomegaly
Cori disease (debranching enZ deficiency) or Von Gierke Diseaes (Glucose-6-phosphatase deficiency more severe)
Infant w/ microcephaly, rocker-bottom feet, clenched hands and structual heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender GB
Corvoisier sign (distal obstruction of biliary tree)
Large rash w/ bull’s eye apperance
Eythema chronicum migrans from ixodes tick bite or Lymes
Lucid interval after traumatic brain injury
Epidermal hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanxmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distened neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeary teeth
Gardner Syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1-4-glucosidase deficiency)
Noenate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk, C5-C6, brachial plexus injury; waiters tip)
No lactation postpartum, absent menstration, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmas, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremeties)
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (ineffective 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 purprua (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid turmors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink Puffer” (emphysema; centriacinar [smoking], panacinar [alpha-1-trypsin deficiency].
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus