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Table 2 Differential diagnosis of neonatal cholestasis

From: Italian guidelines for the management and treatment of neonatal cholestasis

Infections Inherited and metabolic disorders
Viral: Cytomegalovirus α1-antitrypsin deficiency
 Rubella Galactosemia
 Reovirus3 Glycogen storage disorder type IV
 Adenovirus Fructosemia
 Echovirus Cystic fibrosis
 Coxsackie virus Hemochromatosis
 Human herpes virus 6 Tyrosinemia
 Varicella zoster Arginase deficiency
 Herpes simplex Zellweger’s syndrome
 Parvovirus Dubin-Johnson syndrome
 Hepatitis B and C Rotor syndrome
 Human immuno-deficiency virus Hereditary fructosemia
Bacterial: sepsis Niemann Pick disease, type C
 Urinary tract infection Gaucher’s disease
 Syphilis Wolman’s disease
 Listeriosis Bile acid synthetic disorders
 Tuberculosis Progressive familial intrahepatic cholestasis
Parasitic: Toxoplasmosis North American Indian familial cholestasis
 Malaria Aagenaes syndrome
  X-linked adreno-leukodystrophy
Chromosomal disorders Vascular disorders
Turner’s syndrome Budd-Chiari syndrome
Trisomy 18 Neonatal asphyxia
Trisomy 21 Multiple haemangiomata
Trisomy 13 Congestive heart failure
Cat-eye syndrome  
Donahue’s syndrome (Leprechauns)  
Bile duct anomalies Neoplastic disorders
Biliary atresia Neonatal leukemia
Choledochal cyst Histiocytosis X
Alagille syndrome Neuroblastoma
Non-syndromic bile duct paucity Hepatoblastoma
Inspissated bile syndrome Erythrophagocytic lymphohistiocytosis
Caroli syndrome  
Neonatal sclerosing cholangitis  
Spontaneous common bile duct perforation  
Toxicity Miscellaneous
Parenteral nutrition Neonatal lupus erythematosus
Fetal alcohol syndrome ’Le foie vide’ (infantile hepatic non-regenerative disorder)
Drugs Indian childhood cirrosi
  ARC syndrome (Arthrogryposis, renal tubular dysfunction and cholestasis)