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8/14/2019 AJaundicedNeonate.pdf
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Visual Diagnosis
8/14/2019 AJaundicedNeonate.pdf
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A Jaundiced
Neonate
Eva Delgado, MDMorning Report
8/14/2019 AJaundicedNeonate.pdf
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Overview
n Relevance of Neonatal Jaundice to PediatricPractice
n Case Presentationn Differential Diagnosis
nA Standardized Approach to Work-up
n Making the Diagnosis
n Management
n Take Home Points
8/14/2019 AJaundicedNeonate.pdf
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Relevance of Jaundice
n Jaundice from hyperbilirubinemia is found inalmost all neonates in 1st week
n Indirect hyperbilirubinemia lasting beyond 2-3weeks occurs in 20-30% of all breastfeeding
infants
n Jaundice and hyperbilirubinemia can be signs of
underlying pathologyn Excessive hyperbilirubinemia can lead to
Kernicterus
Maisels,Pediatrics in Review, 2006
8/14/2019 AJaundicedNeonate.pdf
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Case Presentation
n2 week-old ex-41 week male delivered by
NSVD with Apgars 8 and 9 presents to the
ED.nMom reports emesis, poor feeding,
lethargy, and worsening jaundice.
8/14/2019 AJaundicedNeonate.pdf
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Case Presentation
n VS: T100.6, P165, BP65/40, R70, 96%
n Gen: Floppy, lethargic
n HEENT: Slight bulge to fontanellen Chest: CTA b/l
n CV: tachycardic, no murmur
nAbd: ++hepatomegaly, distended
n Ext: low tone
n Skin: jaundice to pelvic brim
8/14/2019 AJaundicedNeonate.pdf
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Differential Diagnosis
n Infectious SEPSIS, SEPSIS, SEPSIS
n GI Biliary atresia
Breast milk jaundice Hepatitis
Obstruction of biliary tract
n Cardiac CHF (Congenital heart
disease)
n Social Non-accidental trauma
n ICH*hemolysis
n Metabolic (inborn errors) Galactosemia
Glutaric aciduria*
MSUD
Urea cycle defect Organic acidemia
Gycogen storage disease
n Hematologic G6PD
Hemolytic disease of the
newborn
8/14/2019 AJaundicedNeonate.pdf
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Case Presentation
n PGY2 in ED completes full ROS w/u and starts
empiric Amp/Gent and calls NICU
n BCx becomes + for E.coli within 10 hours
n Pre-rounding PGY1 in NICU finds baby stilllethargic next morning, notes abdominal ascites,
no RR on eye exam, poor UOP
8/14/2019 AJaundicedNeonate.pdf
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Did we miss
something?
Im no lab rat, but from
what Ive read, I think
there might be a
metabolism problem
8/14/2019 AJaundicedNeonate.pdf
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Why listen to the mouse?
n Inborn Errors of Metabolism (IEMs) oftenpresent after maternal enzymes wane OR instates of catabolic stress
n IEMs often look like sepsis/shock but BP isnormal
nA tachypneic baby with clear lungs is breathing
fast for a reasonCompensatory organic acidemias
Direct CNS effect - hyperammonia
Dipple,Recognition and Management of IEM, 2009
8/14/2019 AJaundicedNeonate.pdf
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A Framework for IEM DDX?
nAttempts have been made at developinga rational framework for conceptualizing
inherited metabolic diseases, but there isno one simple method of categorizing allof the inherited metabolic diseases withtheir many different presentations and
various ages of onset.Levy,Pediatrics In Review2009.
8/14/2019 AJaundicedNeonate.pdf
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IEMs - Differential by Age
Age at Onset
< 24 hours old
Neonatal Period > 4 months
Pyruvate Dehydrogenase
Deficiency
Electron transport defects
Non-ketotic
hyperglycinemia Fatty Acid Oxidation d/o
Fructose intolerance
Glycogen storage
disease
Lipidoses (Tay Sachs)
Organic acidemia
Urea cycle defect
Galactosemia
Amino acid d/o (MSUD)PKU
8/14/2019 AJaundicedNeonate.pdf
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IEMs - Differential by Major Symptoms
n Lethargy, coma
Organic acidemias
Urea cycle defectsFatty acid oxidation
disorders
Galactosemias
Glutaric acidemia
n Seizure activity
Nonketotic
hyperglycinemia*
Menkes kinky hair
disease
PKU
MSUD
8/14/2019 AJaundicedNeonate.pdf
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IEMs - Diagnostic Work-Up
n Rule-out more non-metabolic etiologies
n Metabolic Work-up Phase 1:Blood pH and anion gap
LactateKetones
Ammonia (order ON ICE.)
n Metabolic Work-up Phase 2:
Serum amino acidsUrine organic acids
Acyl carnitine panel (for FA oxidation d/o)
8/14/2019 AJaundicedNeonate.pdf
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Lab Results for IEM
NegativeKetones
VariableNormalVariableGlucose
SlightNormal/NH4+
NormalNormalNormal/Lactate
AcidosisAlkaloticAcidoticpH
Amino Acid
Disorder
Urea Cycle
Defect
Organic
Acidemia
First Aid for the Pediatric Boards
8/14/2019 AJaundicedNeonate.pdf
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Case Presentation
n CBC:
WBC 12, Hbg 9, HCT 37,
Plt 195
Normal differential, RDW20%
n Urine:
+ Ketones + Reducing Substances
n Serum amino acids:
Phe, Tyr, Methionine
n Chem 23:
Glucose 30
HCO3 18
T. bili 14 D. bili 4.7
PTT 65
AST 110
NH4+ 20
HEMOLYTIC ANEMIA
LIVER DYSFUNCTION
8/14/2019 AJaundicedNeonate.pdf
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Diagnosis: GALACTOSEMIA
nAutosomal recessive
n 1:60,000 infants in USn Most common defect in GALT
n Tested for in most states at Newborn Screening**
8/14/2019 AJaundicedNeonate.pdf
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A Word on Galactosemia
n Build-up of galactose liver dysfunction,cerebral edema, cataracts, dev. delay
n High frequency of E.coli sepsis
n Diagnosis:Clue = reducing substances in urine
GOLD Standard = GALT enzyme in RBCs
n Treatment: AVOID galactosePrevents E.coli sepsis and liver disease onlyRefer to ophthamology, anticipate ovarian failure,
speech problems/developmental delay
8/14/2019 AJaundicedNeonate.pdf
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Take Home Points
SlightOftenNH4+
VariableNormalVariableGlucose
NegativeKetones
NormalNormalNormal/Lactate
AcidosisAlkaloticAcidoticpH
Amino Acid
Disorder
Urea Cycle
Defect
Organic
Acidemia
8/14/2019 AJaundicedNeonate.pdf
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Take Home Points
n Inborn Errors of Metabolism (IEMs) often
present after maternal enzymes wane
n IEMs often look like sepsis/shock but BP isnormal
nA tachypneic baby with clear lungs is breathing
fast for a reason
Compensatory organic acidemias
Direct CNS effect - hyperammonia
8/14/2019 AJaundicedNeonate.pdf
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BOARDS QUESTION
n On DOL 2, a previously vigorous term baby begins to feed poorly,with tachypnea and decreased responsiveness. Exam is otherwisenormal. Labs show normal CBC and dif, normal pH, normal lytesand glucose and lactate. Serum ammonia is high, urine ketones areabsent. What is the most likely cause?
n A) Fatty acid oxidation defect
n B) Organic acidemia
n C) RTA
n D) Sepsis
n E) Urea cycle defect
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Works Cited
n Maisels, Neonatal Jaundice,Pediatrics in Review, Dec2006.
n Levy, Inborn Errors of Metabolism,Pediatrics in
Review,April 2009. (parts 1&2)n First Aid for the Pediatric Boards
n Dipple, Recognition and Management of Inborn Errorsof Metabolism, UCLA 2009
n Nelsons Textbook of Pediatricsn ANNA-KAISA NEIMI, MD/phD genetics fellow
extraordinaire