Klatskin-like presentation of lymphedema cholestasis syndrome associated with compound heterozygous CCBE1 mutation

Lymphedema cholestasis syndromes (LCS) are genetically heterogeneous conditions characterized by chronic cholestasis with recurrent cholangitis and generalized lymphedema with more severe lower limb affection, which typically manifests in infants and young children. LCS1/Aagenes syndrome is inherited as an autosomal recessive trait and although the exact genetic defect causing LCS1 is yet unknown, it was mapped to chromosome 15q. Genetic heterogeneity can be inferred from the observation that the LCS1 locus on chromosome 15q is not implicated in all patients with this disease phenotype. Similar to portal biliopa…