Peds 2 Flashcards by Matthew Mollman

neonate with alopecia and orange-colored, nodular skin? Tx?

nevus sebaceous

tx = remove before adolescence, can undergo malignant degeneration

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enzyme defect in PKU

phenylalanine hydroxylase

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Newborn with vomiting, athetosis, seizures, developmental delay/MR, fair hair and skin

PKU

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When is breastfeeding CI? (7)

HgE-Ag + Hep B, HIV, herpes on nipple, chemo, Lithium, radioactive iodide
neonatal PKU and galactosemia

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Enzyme defect in galactosemia

G1P-UT

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Newborn with FTT, bilateral cateracts, jaundice, hypoglycemia?

galactosemia

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What are galactosemia babies at increased risk of?

E. coli infxns

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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

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Inherited causes of direct hyperbilirubinemia (2)

Dubin Johnson (black liver)
Rotor Syndrome (milder form)

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TE atresia a/w?

VACTERL (vertebral,anorectal atreisa, cardiac, TE, radial/renal, limb)

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Choanal atresia a/w?

CHARGE (coloboma, haert defects, atresia (choanal), retarded growth, GU, ear)

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mature lungs lecithin:sphingomyeline ratio

> 2

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3 syndromes a/w omphalocele

Edwards, Patau, Beckwith-Weidemann

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Neonate with umbilical hernia and macroglossia (big tongue)

congenital HYPOthyroidism

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Structural abnormality that leads to infantile volvulus

Ladd’s band

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Normal rotation of gut during development

270 CCW around SMA

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Dx CAH

meausre 17,OH-Progesterone before and after ACTH bolus

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Tx 21alpha-hydroxylase deficiency

hydrocortisone/fludrocortisone + aldosterone

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Neonate with RDS, hypocalcemia, polycythemia, dx?

maternal gestational DM

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Empiric Tx neonatal sepsis

amp + gent

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Empiric treatment of infant meningitis

cefotaxime + amp

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MCCs of newborn sepsis

GBS, Listeria, E. coli

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Neonate w/ maculopapular rash on palm/soles, sniffles and periostitis

Congenital syphilis

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Neonate w/ hydrocephalus, intracranial calcifications and chorioretinitis? Tx?

congenital toxoplasmosis

Pyrimethamine (sulfadiazine + leucovorin)

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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