Step 2 Review: Peds

  1. X-linked agammaglobulinemia / Bruton's
    • B cell maturation arrest
    • No B cells, low Ig's
    • Infx with encapsulated bac (H.flu, S.pneumo, psudomonas) after 6 mo
  2. CVID
    • B & T cell defect, age 20-30
    • low Ig's, but normal # of B & T cells
    • more pyogenic upper and lower respiratory infx
    • inc risk lymphoma
  3. IgA deficiency
    • mild, usually asymptomatic
    • may have recurrent respiratory, GI, GU infx
    • do not give IVIg!
  4. Thymic dysplasia
    • part of DiGeorge syndrome
    • presents with tetany in first days of life
    • very high risk of infx with fungi and pneumocystis
    • need PCP prophylax
    • tx: bone marrow transplant and IVIG for antibody deficiency
  5. Ataxia-Telangectasia
    • DNA repair defect
    • oculocutaneous telangectasians and cerebellar ataxis
    • inc risk of NHL, leukemia, gastric carcinoma
    • no treatment
  6. SCID
    • adenosine deaminase deficiency
    • severe lack of B & T cells
    • severe, frequent bac infx, chronic candidiasis, opportunistic organisms (pneumocystis, parainfluenza, HSV)
    • tx: bone marrow or stem cell transplant + IVIG for antibody deficiency
    • need PCP prophylax
  7. Wiskott-Aldrich syndrome
    • XLR, less severe B & T cell dysfn than SCID
    • triad: eczema, thrombocytopenia, recurrent bac infx
    • high IgE/IgA with low IgM
    • high risk of atopic d/o, leukemia, lymphoma, infx from S.pneumo, S.aureus, N.meningitidis, Hib
    • tx: supportive, rarely survive to adulthood
  8. CGD
    • chronic infx with catalase + organisms (staph)
    • inc risk of infection with Aspergillus
    • dx: nitroblue tetrazolium test
    • tx: daily TMP-SMX
  9. Chediak-Higashi syndrome
    • AR, defect in PMN chemotaxis/microtubule polymerization
    • oculocutaneous albinism, neuropathy, neutropenia
    • inc risk serious infx with S.pyogenes, S.aureus, pseudomonas
    • dx: giant granules in PMNs
  10. C1 esterase deficiency
    • AD
    • recurrent episodes of angioedema, provoked by stress/trauma
    • dx: CH50 (assess quantity and funciton of complement)
  11. Terminal complement deficiency C5-C9
    • cannot form MAC
    • seen with congenital asplenia or splenic dysfunction
    • recurrent meningococcal or gonococcal infx
  12. Kawasaki disease: complications, tx
    • Coronary artery aneurysm
    • tx: high dose ASA + IVIG
  13. erythema infectiosum
    • Parvo B19
    • "slapped cheek" rash
    • cx: arthritis, hemolytic anemia, encephalopathy
    • may precipitate aplastic crisis
  14. measles
    • paramyxovirus
    • low grade fever with cough, coryza, conjuctivitis
    • Koplik's spots appear on buccal mucosa after 2 days
    • rash spreads from head to feet
    • cx: subacute sclerosing panencephalitis (rare)
    • Vit A may improve morbidity/mortality
  15. rubella
    • posterior cervical & occipital tender LA
    • rash spreads from head to feet
    • lower grade fever, less ill than measles
    • congenital infx- blueberry muffin rash, cataracts, hearing loss, PDA
  16. Roseola Infantum
    • HHV 6
    • acute onset high fever > 40C
    • rash appears as fever breaks, lasts < 24 hrs
  17. Gilbert's syndrome
    • mild deficiency of UDP glucuronyl transferase
    • triggers: hemolysis, fasting, fat free diet, physical exertion
    • indirect bili < 3
  18. Criggler Najjar: type 1 vs 2
    • type 1- not phenobarbital responsive. risk for kernicterus
    • type 2- phenobarbital responsive. rare kernicterus
  19. Dubin Johnson and Rotor syndrome: histology, presentation
    • Dubin Johnson- black liver
    • Rotor- nl liver histology and appearance. non-itching jaundice
  20. Beckwith-Wiedemann syndrome
    • macrosomia, macroglossia, visceromegaly, microcephaly, omphalocele
    • inc risk of Wilms tumor, hepatoblastoma, gonadoblastoma
  21. Fanconi Anemia: features
    • AR, causes aplastic anemia
    • cafe au lait spots, short stature, radial/thump hypoplasia/aplasia, low set ears, middle ear abnl
  22. ALL: assoications
    trisomy 21, fanconi anemia, SCID, prior radiation
  23. Neuroblastoma: features
    • neural crest origin
    • commonly have mets on presentation
    • associated w NF, Hirschsprung's, N-myc oncogene
    • lesion sites- abdomen > thoracic > cervical
    • dx: histology shows small round blue tumor cells in rosette pattern, high 24 hr urine catecholamines
  24. Wilm's tumor: associations
    • Beckwith Wiedemann syndrome
    • NF
    • WAGR syndrome
  25. Toxo: congenital infx features, tx
    • intracranial calcifications, chorioretinitis, hydrocephalus
    • tx- pyrimethamine + sulfadiazine
    • spiramycin prophylax for 3rd trimester
  26. Rubella: congenital infx features
    cataracts, hearing loss, blueberry muffin rash, PDA
  27. CMV: congenital infx features, tx
    • periventricular califications, blueberry muffin rash
    • tx- gancyclovir postpartum
  28. HSV: congenital infx features, tx
    • intrapartum infx if mom has active lesions
    • no congenital abnl but baby at risk for serious infx
    • tx- acyclovir
  29. Syphilis: congenital infx features, tx
    • mucopurulent rhinitis, macpap skin rash, osteitis, LA, HM
    • Hutchinson's triad- peg-shaped upper incisors, intersitial keratitis, deafness
    • tx- PCN
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Step 2 Review: Peds
Step 2 peds