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WVSOM FA -- 3
WVSOM -- First Aid Classic Presentations Page 3
Question | Answer |
---|---|
Infant with hypoglycemia, failure to thrive, and hepatomegaly | Cori’s disease 9debranching enzyme deficiency) |
Infant with microcephaly, rocker-bottom feet, and structural heart defect | Edwards syndrome (trisomy 18) |
Jaundice, RUQ pain, fever | Charcot’s triad 2 (ascending cholangitis) |
Keratin pearls on a skin lesion | squamous cell carcinoma |
Large rash with bull’s eye appearance | erythema chronicum migrans from tick bite (lyme disease: Borrelia) |
Lucid interval after traumatic brain injury | epidural hematoma |
Male child, recurrent infections, 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) |
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner’s Syndrome (genetic disorder, predisposes to colon cancer) |
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis | Wegener’s and goodpasture’s syndromes (hemoptysis and glomerular disease) |
Neonate with arm paralysis following difficult birth | erb-duchenne palsy (superior trunk [C5-6] brachial plexus injury: “water’s tip”) |
No lactation postpartum, absent menstruation, cold intolerance | Sheehan’s syndrome (pituitary infarction) |
Nystagmus, intention tremor, scanning speech | Charcot’s triad 1 (MS) |
Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or ↑ intracranial pressure) |
Painful blue fingers/toes, hemolytic anemia | cold agglutinin disease (autoimmune hemolytic anemia caused Mycoplasma pneumonia, infectious mononucleosis) |
Painless jaundice | cancer of the pancreatic head obstructing bile duct |
Palpable purpura, joint pain, abdominal pain (child) | Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
Pancreatic, pituitary, parathyroid tumors | Wermer’s syndrome (MEN 1) |
Pink complexion, dyspnea, hyperventilation | “pink puffer” (emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency]) |
Polystotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature in a young girl | McCune-Albright syndrome (mosaic G-protein signaling mutation) |