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WVSOM FA -- 3

WVSOM -- First Aid Classic Presentations Page 3

QuestionAnswer
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)
Created by: tjamrose
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