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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  
Choledocholithiasis  
Gall-stones  
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)