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Key Features

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Essentials of Diagnosis
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  • Elevated total and conjugated bilirubin

  • Hepatomegaly and dark urine

  • Patency of extrahepatic biliary tree

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General Considerations
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  • Accounts for 20–30% of cases of neonatal intrahepatic cholestasis

  • However, it is decreasing in frequency as new causes of cholestasis are discovered

  • Degree of cholestasis is variable

  • May be indistinguishable from extrahepatic causes in 10% of cases

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Clinical Findings

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Symptoms and Signs
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  • Intrauterine growth retardation

  • Prematurity

  • Poor feeding and growth

  • Emesis

  • Partially or intermittently acholic stools

  • Serious hemorrhage from vitamin K deficiency may also be present

  • Neonatal lupus erythematosus may present with giant-cell hepatitis; however, thrombocytopenia, rash, or congenital heart block is usually also present

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Differential Diagnosis
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  • Viral infections

  • α1-Antitrypsin deficiency

  • Alagille syndrome

  • Niemann-Pick type C disease (NPC)

  • Progressive familial intrahepatic cholestasis (PFIC)

  • Citrin deficiency

  • Neonatal hemochromatosis

  • Bile acid synthesis defects

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Diagnosis

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  • HIDA scanning and ultrasonography may help verify patency of biliary tree if stools are acholic

  • Liver biopsy findings

    • Usually diagnostic after age 6–8 weeks

    • May be misleading before age 6 weeks, since there is overlap with biliary atresia histology

  • γ-Glutamyl transpeptidase (GGT) levels are normal or now in

    • Idiopathic neonatal hepatitis

    • Progressive familial intrahepatic cholestasis (PFIC) types I and II

    • Arthrogryposis–renal dysfunction–cholestasis syndrome (ARC) syndrome

    • Disease due to bile acid synthesis defects

  • Indications for intraoperative cholangiography, endoscopic retrograde cholangiopancreatography (ERCP), or percutaneous cholecystography

    • Failure to detect patency of the biliary tree

    • Nondiagnostic liver biopsy findings

    • Persisting complete cholestasis (acholic stools)

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Treatment

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  • Choleretics, a special formula with medium-chain triglycerides (eg, Pregestimil, Alimentum)

  • Breast milk (if growth is adequate)

  • Supplemental fat-soluble vitamins in water-soluble form

  • Continue therapy as long as significant cholestasis remains (conjugated bilirubin > 1 mg/dL)

  • Surgical reconstruction of hypoplastic biliary trees in Alagille syndrome should not be attempted

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Outcome

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Follow-Up
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  • Fat-soluble vitamin serum levels and INR should be monitored at regular intervals while supplements are given and repeated at least once after their discontinuation

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Prognosis
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  • Around 80% patients recover without significant hepatic fibrosis

  • However, failure to resolve the cholestatic picture by age 6–12 months is associated with progressive liver disease and evolving cirrhosis

  • Liver transplantation has been successful when signs of hepatic decompensation are noted (rising bilirubin, coagulopathy, intractable ascites)

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References

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Guddat  SS  et al: Fatal spontaneous subdural bleeding due to neonatal giant cell hepatitis: a rare differential diagnosis of shaken baby syndrome. Forensic Sci Med Pathol 2011 Sep;7(3):294–297
[PubMed: 21331818] .
CrossRef
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Torbenson  M  et al: Neonatal giant cell hepatitis: histological and etiological findings. Am J Surg Pathol 2010 Oct;34(10):1498–1503
[PubMed: 20871223] .
CrossRef

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