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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
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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
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IgA deficiency
- mild, usually asymptomatic
- may have recurrent respiratory, GI, GU infx
- do not give IVIg!
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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
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Ataxia-Telangectasia
- DNA repair defect
- oculocutaneous telangectasians and cerebellar ataxis
- inc risk of NHL, leukemia, gastric carcinoma
- no treatment
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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
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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
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CGD
- chronic infx with catalase + organisms (staph)
- inc risk of infection with Aspergillus
- dx: nitroblue tetrazolium test
- tx: daily TMP-SMX
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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
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C1 esterase deficiency
- AD
- recurrent episodes of angioedema, provoked by stress/trauma
- dx: CH50 (assess quantity and funciton of complement)
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Terminal complement deficiency C5-C9
- cannot form MAC
- seen with congenital asplenia or splenic dysfunction
- recurrent meningococcal or gonococcal infx
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Kawasaki disease: complications, tx
- Coronary artery aneurysm
- tx: high dose ASA + IVIG
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erythema infectiosum
- Parvo B19
- "slapped cheek" rash
- cx: arthritis, hemolytic anemia, encephalopathy
- may precipitate aplastic crisis
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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
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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
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Roseola Infantum
- HHV 6
- acute onset high fever > 40C
- rash appears as fever breaks, lasts < 24 hrs
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Gilbert's syndrome
- mild deficiency of UDP glucuronyl transferase
- triggers: hemolysis, fasting, fat free diet, physical exertion
- indirect bili < 3
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Criggler Najjar: type 1 vs 2
- type 1- not phenobarbital responsive. risk for kernicterus
- type 2- phenobarbital responsive. rare kernicterus
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Dubin Johnson and Rotor syndrome: histology, presentation
- Dubin Johnson- black liver
- Rotor- nl liver histology and appearance. non-itching jaundice
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Beckwith-Wiedemann syndrome
- macrosomia, macroglossia, visceromegaly, microcephaly, omphalocele
- inc risk of Wilms tumor, hepatoblastoma, gonadoblastoma
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Fanconi Anemia: features
- AR, causes aplastic anemia
- cafe au lait spots, short stature, radial/thump hypoplasia/aplasia, low set ears, middle ear abnl
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ALL: assoications
trisomy 21, fanconi anemia, SCID, prior radiation
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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
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Wilm's tumor: associations
- Beckwith Wiedemann syndrome
- NF
- WAGR syndrome
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Toxo: congenital infx features, tx
- intracranial calcifications, chorioretinitis, hydrocephalus
- tx- pyrimethamine + sulfadiazine
- spiramycin prophylax for 3rd trimester
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Rubella: congenital infx features
cataracts, hearing loss, blueberry muffin rash, PDA
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CMV: congenital infx features, tx
- periventricular califications, blueberry muffin rash
- tx- gancyclovir postpartum
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HSV: congenital infx features, tx
- intrapartum infx if mom has active lesions
- no congenital abnl but baby at risk for serious infx
- tx- acyclovir
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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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