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. Author manuscript; available in PMC: 2010 Aug 5.
Published in final edited form as: Pediatr Dev Pathol. 2009 Sep–Oct;12(5):417–420. doi: 10.2350/09-03-0628-CR.1

Table 1.

Paucity of the interlobular bile ducts in infants: a classification based on literature citations

  1. Syndromic paucity

    1. Alagille syndrome with Jag1 mutations

    2. Alagille syndrome with Notch mutations

    3. Alagille-like syndrome (autosomal recessive, no Jag or Notch mutations)

  2. NS paucity in the setting of infection

    1. CMV hepatitis

    2. Congenital syphilis

    3. Sepsis, other

  3. NS paucity: an occasional finding in the setting of an underlying metabolic/genetic disease

    1. α1-antitrypsin deficiency

    2. PFIC2

    3. PFIC3 (personal observation by K.E.B.)

    4. Bile acid synthesis defect

    5. Cystic fibrosis

    6. mDNA depletion

    7. Niemann-Pick type C

    8. Congenital panhypopituitarism

    9. Type IV glycogenosis, neonatal type (personal observation by K.E.B.)

    10. Congenital diabetes mellitus

  4. NS paucity; an occasional component of a complex syndrome

    1. Peroxisomal disorder (Zellweger syndrome)

    2. Ivemark syndrome (renal-pancreatic-hepatic dysplasia)

    3. Down syndrome

    4. Arthrogryposis-renal-cholestasis syndrome

  5. NS paucity: a component of disorders not classifiable

    1. Biliary atresia (late)

    2. Infantile sclerosing cholangitis

NS indicates nonsyndromic; PFIC, progressive familial intrahepatic cholestasis.