AJaundicedNeonate.pdf

8/14/2019 AJaundicedNeonate.pdf

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Visual Diagnosis


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A Jaundiced

Neonate

Eva Delgado, MDMorning Report


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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


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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


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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.


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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


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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


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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


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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


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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


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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.


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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


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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


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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)


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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


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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


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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**


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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


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Take Home Points

SlightOftenNH4+

VariableNormalVariableGlucose

NegativeKetones

NormalNormalNormal/Lactate

AcidosisAlkaloticAcidoticpH

Amino Acid

Disorder

Urea Cycle

Defect

Organic

Acidemia


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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


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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

AJaundicedNeonate.pdf

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