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Bruton aggamaglobulinemia - ANSWER=Multiple ear infections, diarrheal episodes, and
pneumonia's
-no tonsils
-x-linked
-see at 6-9 months
-absent B cells on flow cytomegalovirus, low levels of all IGs
Combined variable immune deficiency - ANSWER=Decreased levels of IgG, IgM, IgE, IgA but
normal numbers of B cells
-acquired
-complication can be increased lymphoid tissue = increased risk for lymphoma
Selective IgA deficiency - ANSWER=Most common B cell defect = recurrent URIs and diarrhea
--can cause anaphylaxis reaction if give blood transfusion with IgA
DiGeorge Syndrome - ANSWER=Seizure, truncus arteriosus, micrognathia
--microdeletion on chrom 22
-infections of candida, viruses, and PCP pneumonia
SCID - ANSWER=Severe infections, no thymus or tonsils, severe lymphopenia
--pediatric emergency! Need bone marrow transplant by age 1 or will die
,--infections of bacteria, virus, and opportunistic bugs
--aut recessive is ADA deficiency
Chronic granulomatous disease - ANSWER==PMNs can ingest but not kill catalase+ buts
-recurrent infected lymph nodes in groin and staph aureus skin abscesses
How to diagnose chronic granulomatous disease - ANSWER=Nitrotetrazolium blue
Yellow = have disease
--new test is flow cytomegalovirus with DHR-123
Wisckott-Aldrich syndrome - ANSWER=Severe eczema, petechiae, and recurrent ear infections
-prolonged bleeding after circumcision
-low IgM, high IgA and IgE, slightly low IgG
Why do newborns lose 10% of birthweight in first week? - ANSWER=Dieresis of extravascular
fluid
When should antimicrobial prophylaxis be given for Lyme disease and what is it? - ANSWER=the
tick requires 48-72 hours of feeding for the infection to transfer so if the tick is removed early
(using forceps) then you don't need prophylaxis
if you do need it, it's a single dose of doxycycline
Painful lymphadenitis that fails to respond to empiric therapy with clindamycin should raise
suspicion for what causative agent? - ANSWER=Bartonella henselae
,switch to azithromycin
Infants with meningococcemia are at risk of sudden vasomotor collapse and skin rash due to
what complication? - ANSWER=adrenal hemorrhage (Waterhouse-Friderichsen)
How is acute unilateral cervical lymphadenitis treated? - ANSWER=clindamycin - activity against
S pyogenes, staph aureus, and anaerobes
alternative is Augmentin
In adults the most common cause of CF related pneumonia is pseudomonas but what is the
most common cause in infants and young children? - ANSWER=staph aureus
What is infant dyschezia? - ANSWER=common benign functional stooling disorder involving
failure to coordinate intraabdominal pressure with relaxation of pelvic floor muscles and
inadequate abdominal muscle tone, basically looks like the baby is having trouble passing stool
but the stool is normal
resolves spontaneously typically by 9 months
Low concentrations of what can lead to small or absent lymphoid tissue like tonsils or adenoids?
- ANSWER=low B cell concentrations
Marfan syndrome is an autosomal dominant disorder of the [gene] - ANSWER=fibrillin 1 gene
Any neonate under 28 days with a temperature over 38C or under 36C should get what work
up? - ANSWER=sepsis work up
, For a neonate with unconjugated hyperbilirubinemia receiving phototherapy, what warrants an
escalation to exchange transfusion as a therapy? - ANSWER=bilirubin over 25 or signs of
neurologic dysfunction (lethargy, change in tone)
What are the most common triggers (3 groups) of drug-induced hemolytic anemia? -
ANSWER=NSAIDs, penicillins, and cephalosporins
Drug induced hemolytic anemia is associated with a [negative/positive] direct Coombs test -
ANSWER=positive
In a patient with functional constipation, what would be the likely contributor to recurrent
UTIs? - ANSWER=urinary stasis due to hard stool in the rectum compressing the bladder and
urethra
An infant with cleft lip and palate, wide anterior fontanelle, distal phalange hypoplasia,
microcephaly, and cardiac anomalies was likely exposed to what in utero? -
ANSWER=antiepileptic medications (ex. phenytoin, valproate)
exposure results in fetal hydantoin syndrome
How should women who take antiepileptics be managed during pregnancy? - ANSWER=to avoid
fetal hydantoin syndrome, meds should be titrated to the lowest dose prior to conception and
start them on high dose folic acid supplementation
T/F: cocaine use during pregnancy is not associated with congenital defects - ANSWER=True -
but it can cause preterm delivery, placental abruption, and fetal growth restriction