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Interesting Case Rounds

Interesting Case Rounds. July 31, 2008 Sean Caine CCFP-EM Resident. The Case. 90 d F referred from urgent care for FTT and prolonged jaundice. History. History. Pregnancy Mother was 23 yo Caucasian female G1P0 O neg Routine serology was normal GBS negative Nonsmoker. No EtOH

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Interesting Case Rounds

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  1. Interesting Case Rounds July 31, 2008 Sean Caine CCFP-EM Resident

  2. The Case 90 d F referred from urgent care for FTT and prolonged jaundice

  3. History

  4. History • Pregnancy • Mother was 23 yo Caucasian female G1P0 O neg • Routine serology was normal • GBS negative • Nonsmoker. No EtOH • Uncomplicated pregnancy (no PIH or GDM) • Delivery • SVD @ 39wks GA • ROM x 3 hrs • BW=3220 • Apgar 91,95 • DAT negative • Newborn metabolic screen was normal • Tbili at discharge =190 • d/c home 24hrs postpartum

  5. History • Followed by GP qweekly x 6 wks • Jaundiced noted again at 6wk follow up with maternity care clinic • 1 oz wt loss in past month • Exclusively breast fed. Feeds well. • ~6-8 BM/day. Stools are typically yellow. Recently have become more pale. • ~6-8 wet diapers/day. Urine is brown. • ROS otherwise unremarkable for sleep, appetite, activity, or symptoms indicative of focus for infection etc

  6. On exam • VS: 36.6 119 88/47 36 • No apparent distress. Awake. Alert. Interactive and pleasant • ++scleral icterus. +jaundice • Firm liver edge. Palpable spleen tip. • CV, Resp, CNS, Abdo exam otherwise unremarkable

  7. Labs/Investigations

  8. CBC Hb 110 (90-140) WBC 21.5H (5-19.5) Plt 569 H (150-400) Neut 9.2 H (1-9) Lytes, Cr, Urea – NORMAL Urinalysis/R&M LARGE Leuks, SMALL blood 20-30 WBC/hpf 0-5 RBC Few bacteria LFT/enzymes Tbili 178 H (0-23) Direct bili 118 H (0-7) ALT 199 H (1-35) AST 262 H (10-65) ALP 461 H (40-390) GGT 796 H (8-35) Albumin 38 INR 1.1 PTT 40.5 H (27-36) Ammonia 61 H (12-47) Labs/Investigations

  9. Objectives • Review features of physiologic and pathologic jaundice • Review approach to neonatal cholestasis • Highlight some common pitfalls • Return to the case to review the work up and diagnosis

  10. Hyperbilirubinemia • Has increasingly become a presenting complaint to ER due to early postpartum discharge • However, still rare to encounter in Calgary ER • Screened by PHN/GP in first 3-5 days postpartum • Direct admit to PLC Unit 31 for assessment +/- phototherapy

  11. Hyperbilirubinemia

  12. Physiologic vs. Pathologic Jaundice in the Newborn

  13. Physiologic Unconjugated hyperbilirubinmia 60% term & >80% preterm neonates in first week Rises at rate <85 umol/L/day Appears on 2nd or 3rd day of life Typically peaks btwn days 2-4 Begins to decline on days 5-7 at rate of 34 umol/L/day Pathologic Appears <24 hrs Excessive for infant’s age (Tbili > 205 umol/L) Elevated direct bilirubin Jaundice present at or beyond 3 wks Sick infant Tbili rising >85 umol/L/day Unexplained jaundice following phototherapy Jaundice in the presence of risk factors Physiologic vs. Pathologic Jaundice in the Newborn1

  14. Ddx Conjugated vs. Unconjugated Hyperbilirubinemia UNCONJUGATED CONJUGATED Physiologic Pathologic Hepatic Infectious Sepsis Hep B, TORCH Metabolic Galactosemia Tyrosinemia Alpha-1-antitrypsin Hypothyroidism CF Drugs TPN Idiopathic neonatal Cholestasis Bile duct paucity AbN Bile acid metabolism Extra Hepatic Biliary atresia Choledocal cyst Non-hemolytic Cephalohematoma Polycythemia Sepsis Hypothyrodism Gilbert’s Crigler- Najjar Hemolytic Extrinsic Immune ABO-incompatibility Rh-incompatibility Kelly-Duffy etc Non immune Splenomegaly Sepsis AV malformation Hemolytic Intrinsic Membrane Spherocytosis Elliptocytosis Enzyme G6PD PK deficiency Hemoglobin Alpha thal

  15. Ddx of Hyperbilirubinemia According to Time of Onset First 24 hours 24-72 hours 72-96 hours > 1 week • Often pathologic • Hemolysis (Rh • or ABO) • Sepsis (GBS, • TORCH) • Cephalohematoma • Spherocytosis • Hemorrhagic • disease of the • newborn • Often pathologic • Breast milk jaundice • Prolonged • Physiologic • Hypothyroidism • Neonatal • Hepatitis • Galactosemia • Familial • Cholestasis • Biliary atresia • Paucity of bile • ducts • Physiologic • Polycythemia • Dehydration • Hemolysis • G6PD • PK def • Cephalohematoma • Spherocytosis • Sepsis/TORCH • Physiologic • Dehydration • Sepsis • Gilbert’s • Crigler-Najjar • Hypoxia/resp • distress/hypoG

  16. Neonatal Cholestasis • Defined as the impaired canalicular biliary flow resulting in acumulation of biliary substances (bilirubin, bile acids, and cholesterol)2 • Estimated incidence of 1/2500 live births • Jaundice at 2-3 weeks of age increases suspicion2 • 2.4-15% of newborns are jaundice at 2 weeks of age6 • Estimated that 60-375 jaundiced infants at 2 weeks of age would need to be tested to detect one case of cholestasis 26

  17. Common Pitfalls • Breast feeding jaundice • Exaggeration of physiologic jaundice • Day 2  7 • Premature babies: can last up to 10 days • Breast milk jaundice • 2% of breast fed babies • Starts ~ day 7, persists until week 2-3 • May persist for 3-10 weeks at low levels • Unconjugated • Theory: glucuronidase in breast milk  increased enterohepatic bilirubin re-circulation

  18. Clinical Presentation Prolonged jaundice Pale stools Dark urine Coagulopathy Hepatomegaly Splenomegaly RUQ mass FTT Less specific suggestive of underlying metabolic, CNS, or infectious aetiology: Fever Irritability Lethargy, Seizures Poor feeding Dysmorphic features Neonatal Cholestasis

  19. Obstruction Biliary Atresia Choledochol cyst Tumor Inspissated bile/plug sybdrome Gallstone Biliary Sludge Ddx Neonatal Cholestasis Infectious Bacterial Protozoal TORCH Echovirus Adenovirus Parvovirus B18 Metabolic/Genetic Alagille Syndrome α-1-Antitrypsin Galactosemia Tyrisonemia Lipid metabolism disorders Bilae acid metabolism disorders Mitochondrial Disease Citrin deficiancy

  20. Approach to Neonatal Cholestasis • Initial investigations: Establish cholestasis and determine severity of disease • Detailed hx, exam • Fractioned serum bili • Tests for liver injury (AST, ALT, ALP, GGT) • LFT (Albumin, INR, PTT, serum ammonia, glucose) • Detect conditions that require immediate treatment • CBC, blood & urine cultures to r/o sepsis • Serum T4 and TSH • Metabolic Screen: lactate, ammonia, iron, ferritin, urinalysis, urine amino acids and organic acids • Viral serologies, VDRL, and cultures

  21. Approach to Neonatal Cholestasis • Differentiate extrahepatic disorders from intrahepatic causes of cholestasis • U/S • Hepatobiliary scintigraphy • Perc liver bx, • Exploratory laparotomy with intraoperative • Establish other specific diagnosis • α-1-antitrypsin, CF, Alagille, PFIC, storage disorders

  22. Back to the Case • Initial investigation: establish cholestasis • Detect conditions that require treatment • Differentiate extrahepatic disorders from intrahepatic causes of cholestasis • Investigate for the rare diagnosis

  23. BiliaryAtresia • Inflammation of bile ducts leading to progressive obliteration of the extrahepatic biliary tract • Most common cause of cholestasis in the first few weeks of life • Incidence of 1/10,000 to 1/20,000 births • Cause remains unknown though various infectious (CMV, reovirus, rotavirus) and genetic causes have been proposed

  24. Biliary Atresia • Jaundice typically develops in weeks 3-6 • Uncommon for jaundice to be present at birth • 10-15% association with congenital malformations (polysplenia, malrotation, etc)

  25. Biliary Atresia • Diagnosis • U/S can be suggestive • Liver biopsy is the most useful test • HIDA useful • Specificity improved with phenobarb 5d before scan • Duodenal aspirate • Exploratory laparotomy & intraoperative cholangiogram • ERC and MRC likely to have future

  26. Ultrasound • Main utility is to r/o other extrahepatic causes (ie choledochol cyst) • Findings suggestive of biliary atresia • Absence of gallbladder • Abnormal gallbladder size and shape • “Triangular cord” sign • Absence of a common bile duct

  27. Ultrasound

  28. Ultrasound • Abnormally small and contracted gallbladder and irregular contour and septations in the gallbladder neck. • Common bile duct not visualized • Consistent with biliary atresia

  29. Biliary Atresia Treatment • Primary treatment is Kasai procedure • Early diagnosis and surgery is critical • Narrow window for optimal short and longterm outcomes • bile drainage achieved in >80% of patients <60 days of age vs. 20% of infants >90 days • 4 yr survival with native liver • 49% with sx <30 days of age • 36% with sx at 31-90 days of age • 23% with sx at >90 days of age

  30. Kasai

  31. Pearls • Recognize pathologic features of jaundice • Obtain fractioned serum bili level (ie total and direct) on all 2-3 week old jaundiced infants • Infants with biliary atresia will often appear to be well in the first 1-2 weeks of life • Neonatal cholestasis is rare, but timely diagnosis is crucial!

  32. References • Subcommittee on Hyperbilirubinemia. Management of Hyperbilirubinemia in the Newborn Infant 35 or More weeks of Gestation. Pediatrics. 2004;114:297-316. • Venigalla S, Gourley GR. Neonatal Cholestasis. Seminars in Perinatology.2004;28:348-355. • Suchy F. Neonatal Cholestasis. Pediatrics in Review. 2004;25:388-395. • Schreiber RA, Barker CC, Roberts EA, et al. Biliary Atresia: the Canadian Experience. Journal of Pediatrics. 2007;151:659 • Abrams S, Shulman R. Causes of Neonatal Cholestasis. UpToDate. Last updated June 12, 2008. • Abrams S, Shulman R. Approach to Neonatal Cholestasis. UpToDate. Last updated September 26, 2006.

  33. The End

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