Neonatal sclerosing cholangitis

Neonatal sclerosing cholangitis is a rare biliary tract disease characterised by severe neonatal-onset cholangiopathy with patent bile ducts.4

Some extrahepatic signs such as ichthyosis-like skin lesions and renal disease may be present.4

Some cases have a genetic origin with an autosomal recessive pattern of inheritance (mutation in the CLDN1 and DCDC2 genes).34,35


Diagnosis is usually achieved by:

4. INSERM. Orphanet. European Union: The portal for rare diseases and orphan drugs. 2021 (accessed 09/2021 at

34. Girard M, Bizet AA, Lachaux A, et al. DCDC2 mutations cause neonatal sclerosing cholangitis. Hum Mutat 2016;37:1025-9.

35. Hadj-Rabia S, Baala L, Vabres P, et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 2004;127:1386-90.

36. Shetty NS, Shah I. Neonatal cholestasis due to primary sclerosing cholangitis. J Family Med Prim Care 2016;5:863-4.