CholestasisMuzal Kadim-Aryono Hendarto

Gastrohepatology DivisionChild Health DepartmentMedical Faculty University of Indonesia

DefinitionNeonatal cholestasis is defined as conjugated hyperbilirubinemia developing within the first 90 days of extrauterine lifeConjugated bilirubin > 1.0 mg/dlConjugated bilirubin > 20% of the total bilirubin.

Cholestatic jaundiceAffects 1 : 2,500 Infants and is thus infrequently seen by mostproviders of medical care to infants

BUT

Many infants withCholestatic appear otherwise healthy and grow normally Misleading physician into believing that is physiologic or caused by breast-feeding, when infact it may be caused by biliary atresia

PresentationJaundice - conjugated bilirubinPale stools Dark urineAbnormal LFTs - high or low GGTBleedingHepatosplenomegalyAbdominal massFailure to thrive

Differential Diagnosis

Anatomy1. Biliary atrresia2. Choledochal cystInfectious3. Toxoplasmosis4. Rubella5. CMV6. Herpes simplex7. Syphilis8. Bacterial sepsis9. Urinary tract infectionMetabolic10. Tyrosinemia11. GalactosemiaEndocrine12. Hypothyroidism13. HypocortisolismGenetic14. Alagille syndrome15. PFIC

Cholestasis at Ciptomangunk usumo Hospital (2000-2003)N = 162 ptIdiopathic NNH28%EHBA23%UTI17%Sepsis14%CMV5,5%Alagille2 %Choledochal Cyst1%Miscellaneous 9,5% (metabolic, PFIC etc)

Clnical historyDetail about mothers pregnancyBirth weigh and gestational ageVit K administrationFamily historyConsanguinityHistory of present illnessDate of jaundiceColor of stools and urineDrug history, parenteral nuitritionBleedingFeeding histroyDiarrhea and vomiting

Clinical Clues

Clinical featureSuggestingFamily history, consanguinity, dysmorphic featureMetabolic/inherited diseaseBruising, petechiae or bleedingVit K deficiencyHypoglycemiaSecondary to metabolic diseaseHypopituitarismAcute liver failureSplenomegalyIntrauterine infectionInborn error of metabolismAdvance liver diseaseAscitesIntrauterine infectionInborn error of metabolism

Clinical Clues...

Clinical featureSuggestingDysmorphicTrisomies, AlagillesCardiac MurmurAlagilles, EHBASick InfantSepsis, HLH,cong infecMicropenisPanhypopituitarismCataractsRubella, GalactosaemiaSitus InversusEHBARetinal probsTORCHS, AlagillesMassCholedochal CystCutan HaemangiomaLiver HaemangiomaWhite HairHLHBile Stained HerniaSpont Perforation of Bile Duct

Initial investigationFractioned serum bilirubin analysisSGPT, SGPT, GGTTest for liver function: PT, aPTT, albumin, cholesterol, glucoseCBCBacterial culture: urine and or blood if indicatedUrinalysis including reducing sugarFT4 and TSH if screening was not performed

Pale StoolsWarrants urgent referral to exclude biliary atresia- surgery

JaundiceAcutely ill? Manage the acute illness Consider: Sepsis, UTIHypopitutarismIron storage disease Metabolic disordersHemolysisYesCholestasis?

No

Cholestasis?YesNoHistoryPhysical examUrinalysisUrine cultureFT4,TSHFinding spesific disease?Unconjugated hyperbilirubinemiaEvaluate further

Finding spesific disease?YesNoTreat&Evaluate furtherDoes Bilirubin normalize by 4-6 weeks of age?No

Consult Pediatric GI

Thank you

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