Aagenaes Syndrome

An idiopathic form of familial intrahepatic cholestasis associated with lymphedema of the lower extremities.

It is a syndrome characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts.

It is autosomal recessively inherited. A common feature of the condition is generalized lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin. It is named after Oystein Aagenaes, a Norwegian pediatrician. It is also called cholestasis-lymphedema syndrome (CLS).


[External Links]
Information from wrongdiagnosis.com
Support information from ncbi.nlm.nih.gov