Classic Presentations 3 Flashcards
Infant with failure to thrive
Hepatosplenomegaly
Neurodenegeration
Neimann Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia
failure to thrive
hepatomegaly
Cori’s disease (debranching enzyme deficiency)
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 from Ixodes tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
male child, recurrent infections, no mature B cells
Bruton’s disease (X-linked agammaglobuliemia)
mucosal bleeding and prolonged bleeding time
Glazmann’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 (subtype of FAP)
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease (lysosomal alpha 1,4 glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: Waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (Pituitary infxn)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
SIIN
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increase intracranial pressure)
painful blue fingers/toes
hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infxnous mononucleosis)
Painful, pale, cold fingers/toes
Paynaud’s phenomenon (vasospasm in extremities)
painful, raised red lesions on pad of fingers/toes
Osler’s node (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infxtive endocarditis, septic emboli/microabscess)
painless jaundice
cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
pancreatic, pituitary, parathyroid tumors
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 antitrypsin deficiency
