| Obstruction |
| Biliary atresia¶ |
| Biliary cysts |
| Inspissated bile/mucous plug |
| Cholelithiasis or biliary sludge |
| Tumors/masses (intrinsic and extrinsic to the bile duct) |
| Neonatal sclerosing cholangitis |
| Spontaneous perforation of the bile ducts |
| Infection¶ |
| Viral |
| Adenovirus, cytomegalovirus, echovirus, enterovirus, herpes simplex virus, HIV, parvovirus B19, rubella |
| Bacterial |
| Urinary tract infection, sepsis, syphilis |
| Protozoal |
| Toxoplasma |
| Genetic/metabolic disorders |
| Inherited cholestatic disorders |
| Alagille syndrome¶Δ (MIM #118450) |
| Alpha-1 antitrypsin deficiency (PI*Z homozygotes or PI*SZ heterozygotes)¶ (MIM #613490) |
| ARC syndrome (arthrogryposis-renal dysfunction-cholestasis) (MIM #208085) |
| Cystic fibrosis (MIM #219700) |
| Progressive familial intrahepatic cholestasis (types 1 to 5)¶◊ (MIM #211600, MIM #601847, MIM #602347, MIM #615878, MIM #617049) |
| MYO5B gene mutations (with or without congenital diarrhea due to microvillus inclusion disease)[1] (MIM #251850, MIM #619868) |
| NISCH syndrome (neonatal ichthyosis sclerosing cholangitis) (MIM #607626) |
| Dubin-Johnson syndrome§ (MIM #237500) |
| Rotor syndrome (MIM #237450) |
| Disorders of carbohydrate metabolism |
| Galactosemia¶ (MIM #230400) |
| Fructosemia (MIM #229600) |
| Glycogen storage disease type IV (MIM #232500) |
| Transaldolase deficiency (MIM #606003) |
| Disorders of amino acid metabolism |
| Tyrosinemia (type 1)¶ (MIM #276700) |
| Disorders of lipid metabolism |
| Lysosomal acid lipase deficiency (Wolman disease) (MIM #278000), Niemann-Pick type C (MIM #257220), Gaucher type 2 (MIM #230900) |
| Fatty acid oxidation defects (eg, MIM #201470, MIM #201475) |
| Disorders of bile acid synthesis |
| Bile acid synthesis defects (types 1 to 6) (MIM #607765, MIM #235555, MIM #613812, MIM #214950, MIM #616278, MIM #617308) |
| Cerebrotendinous xanthomatosis (MIM #213700) |
| Amidation defects (BAAT or SLC27A5 gene mutations) |
| Zellweger spectrum disorders◊ (MIM #214100 and others) |
| Smith-Lemli-Opitz syndrome◊ (MIM #270400) |
| Mitochondrial disorders¥ |
| Urea cycle defect |
| Citrin deficiency (type II) (MIM #605814) |
| Congenital disorders of glycosylation |
| Phosphomannomutase 2 deficiency (MIM #212065) |
| Phosphoglucomutase 1 deficiency (MIM #614921) |
| Mannosephosphate isomerase deficiency (MIM #602579) |
| Alloimmune |
| Gestational alloimmune liver disease |
| Toxic |
| Intestinal failure-associated liver disease (parenteral nutrition)¶ |
| Drugs (ceftriaxone, erythromycin, sulfa-containing medications) |
| Miscellaneous |
| "Idiopathic" neonatal hepatitis |
| Nonsyndromic paucity of the interlobular bile ducts |
| Hemophagocytic lymphohistiocytosis |
| Shock/hypoperfusion |
| Intestinal obstruction |
| Congenital portosystemic shunt |
| Hypothyroidism |
| Hypopituitarism (eg, in septo-optic dysplasia) |
HIV: human immunodeficiency virus.
¶ More common disorders causing neonatal cholestasis.
Δ Alagille syndrome is also known as syndromic paucity of the interlobular bile ducts or arteriohepatic dysplasia.
◊ These disorders are classified as secondary bile acid metabolic defects.
§ Presentation of Dubin-Johnson syndrome in neonates and young infants is rare but has been reported[2].
¥ For mitochondrial hepatopathies, refer to UpToDate table and content on acute liver failure in infants and children.