Rapid Review 2 Flashcards
infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick Disease
infant with hypoglycemia, failure to thrive, hepatomegaly
Cori’s Disease
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards’ Syndrome (trisomy 18)
jaundice, palpable distended non-tender gallbladder
Courvoisier’s Sign (distal obstruction of biliary tree)
large rash with bull’s-eye appearance
erythema chronicum migrans (Lyme Disease)
lucid interval after traumatic brain injury
epidural hematoma
male child with recurrent infections and no mature B-cells
Bruton’s disease (X-linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner’s Syndrome
myopathy/infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe’s Disease
neonate with arm paralysis following difficult birth
Erb-Duchenne Palsy (C5-C6, waiter’s tip)
no lacation postpartum, absent menstruation, cold intolerance
Sheehan’s Syndrome
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease due to mycoplasma
painful, pale, cold fingers/toes
Raynaud’s phenomenon
painful, raised red lesions on pad of fingers or toes
Osler’s Node
painless erythematous lesions on palms and soles
Janeway lesions
painless jaundice
cancer of the pancreatic head obstructing bile duct
palpable purpura on buttocks or legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein Purpura
pancreatic, pituitary, and parathyroid tumors
MEN1 (AD)
periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
pink complexion, dyspnea, hyperventilation
pink puffer due to emphysema
polyuria, RTA Type II, growth failure, electrolyte imbalances, hypophophatemic rickets
Fanconi’s Syndrome