Peds 2 Flashcards
neonate with alopecia and orange-colored, nodular skin? Tx?
nevus sebaceous
tx = remove before adolescence, can undergo malignant degeneration
enzyme defect in PKU
phenylalanine hydroxylase
Newborn with vomiting, athetosis, seizures, developmental delay/MR, fair hair and skin
PKU
When is breastfeeding CI? (7)
HgE-Ag + Hep B, HIV, herpes on nipple, chemo, Lithium, radioactive iodide
neonatal PKU and galactosemia
Enzyme defect in galactosemia
G1P-UT
Newborn with FTT, bilateral cateracts, jaundice, hypoglycemia?
galactosemia
What are galactosemia babies at increased risk of?
E. coli infxns
Signs of concern in neonate w/ jaundice (4)
If:
present on 1st day of life, Total Bili >12, Direct Bili >2, rise of >5/day
Inherited causes of direct hyperbilirubinemia (2)
Dubin Johnson (black liver) Rotor Syndrome (milder form)
TE atresia a/w?
VACTERL (vertebral,anorectal atreisa, cardiac, TE, radial/renal, limb)
Choanal atresia a/w?
CHARGE (coloboma, haert defects, atresia (choanal), retarded growth, GU, ear)
mature lungs lecithin:sphingomyeline ratio
> 2
3 syndromes a/w omphalocele
Edwards, Patau, Beckwith-Weidemann
Neonate with umbilical hernia and macroglossia (big tongue)
congenital HYPOthyroidism
Structural abnormality that leads to infantile volvulus
Ladd’s band
Normal rotation of gut during development
270 CCW around SMA
Dx CAH
meausre 17,OH-Progesterone before and after ACTH bolus
Tx 21alpha-hydroxylase deficiency
hydrocortisone/fludrocortisone + aldosterone
Neonate with RDS, hypocalcemia, polycythemia, dx?
maternal gestational DM
Empiric Tx neonatal sepsis
amp + gent
Empiric treatment of infant meningitis
cefotaxime + amp
MCCs of newborn sepsis
GBS, Listeria, E. coli
Neonate w/ maculopapular rash on palm/soles, sniffles and periostitis
Congenital syphilis
Neonate w/ hydrocephalus, intracranial calcifications and chorioretinitis? Tx?
congenital toxoplasmosis
Pyrimethamine (sulfadiazine + leucovorin)
Neonate w/ cataracts, deafness, heart defects and extramedullary hematopoeisis
Congenital rubella
neonate w/ microcephaly, periventricular calcification, deafness, thrombocytopenia, petechia, seizures? Tx?
Congenital CMV
Tx = Ganciclovir
Neonate w/ limb hypoplasia, cutaneous scars, catacts, chorioretinitis, cortical atrophy
CONGENITAL varicella (not neonatal)
When and how do you treat NEONATAL varicella
if mom was exposed either 5 days prior or 2 days after delivery, give baby VZIG
Tx gonococcal conjunctivitis
IV cefotaxime or cefalexin
possible complication of neonatal chlamydial conjunctivitis
pneumonia
neonate w/ grayish-brown spots in the periphery of his irises, MC assoc?
Down’s (brushfield spots, can be normal tho)
Macroglossia a/w? (3)
congenital hypothyroidism, Down’s, Beckwith-Weidemann
Annular pancreas MC a/w
Down’s
Imperforate anus MC a/w
Down’s
Omphalocele, rocker bottom feet, microcephaly, clenched hand? A/w what heart defect?
Edward Syndrome, a/w VSD
MC genotype of aborted fetus
Turner’s (45 XO)
Bicuspid aortic valve MC a/w?
Down’s
Mandibular hypoplasia, glossoptosis, cleft (soft) palate? a/w?
Pierre-Robin Sequence
a/w Fetal Alcohol Syndrome or Treacher-Collins
Broad, square face, short stature, self-injurious behavior and developmental delay
Smith Magenis Syndrome (chr 17 deletion)
hypotonia, hypogonadism, hyperphagia, skin picking, aggression
Prader-Willi Syndrome (PATERNAL deletion of 15q)
Kid with seizures, trabismus, sociable/happy, hand-flapping, episodic laugther
Angelman Syndrome (MATERNAL deletion of 15q)
Elfin appearance, friendly, increased empathy and verbal reasoning ability but developmental delay
Williams Syndrome (chr 7 deletion)
MCC mental retardation in US? in boys specifically?
MCC = Fetal alcohol syndrome
in boys = Fragile X
Boy with macrocephaly, macroorchidis, large ears? Etilogy?
Fragile X CGG repeats on X, demonstrates anticipation
Advanced PATERNAL age can cause?
Waardenburg Syndrome (AD)
kid with hearing loss, white forelock, 2 different colored eyes, + FHx
Waardenburg Syndrome
2yo with recurrent infections, otitis media, diarrhea and pneumonia without tonsils? inheritence?
Bruton’s Agammaglobulinemia, X-linked recessive
absence of B cells on cytometry, low levels of ALL Ig’s
Brutons Agammaglobulinemia
Normal number of B cells on cytometry but low levels of ALL Ig’s
CVID
Kids with CVID are at increased risk of?
Lymphoma 2/2 increased predisposition to formation of lymphoid tissue
MC B cell defect
IgA deficiency
Seizures, truncus arterosus, micrognathia
DiGeorge Syndrome
Syndrome a/w recurrent candida, viral infxns and PCP infections
DiGeorge Syndrome (lack of T cells)
Infant/kid with no thymus and no tonsils? inheritance?
SCID (combined deficiency of B and T cells)
X linked recessive
Milder form of SCID?
Adenosine Deaminase Deficiency (leads to dATP buildup in mitotically active cells, esp B and T cells)
Tx severe infxns in SCID
BM transplant before 1yo
Nitroblue tetrazolium test
Chronic Granulomatous Disease (negative in CGD b/c defect in production of ROS/ NADPH deficiency)
infxns seen in CGD
S aureus, E coli, Candida, Klebsiella, Pseudomonas, Apsergillus
Tx CGD
Daily Bactrim +/- IFN-gamma to decrease serious infxns
kid with anemia, LAD, hypergammaglobulinemia and recurrent infxns
CGD
Partial oculocutaneous albinism, peripheral neuropathy, neutropenia
Chediak-Higashi Syndrome
Infxns seen in Chediak Higashi syndrome
pyogenic = Strep pyogenes (GAS), S aureus, Pseudomonas
inherited immunodeficiency w/ giant granules in neutrophils on microscopy
Chediak-Higashi Syndrome
Coarse facies, abscesses, eosinophilia, severe eczema
Job’s Syndrome
Tx Job’s syndrome
oxacillin/dicloxacillin/nafcillin + IVIG
eczema, petechiae, recurrent otitis media
Wiskott-Aldrich Syndrome (decreased IgM, increased IgA/E)
Immunizations at birth
HepB
Immunizations at 2/4/6 months
Hep B, rotavirus, DTaP, Hib, pneumococcoal, IPV?
when can you start given infant flu shots?
6mo
immunizations at 12mo
MMR, varicella, HepA
Immunizations needed to be completed by 2yr
DTaP, HepA
Soft systolic murmur w/ vibratory and musical quality heard at lower sternal border
Still’s murmur = completely benign, no assoc cond
Cyanotic newborn that doesn’t improve with O2
Transposition of Great Vessels
ToGV MC seen in…
infants of DM mothers
