Aagenaes syndrome is a syndrome characterised 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. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin1. Approximately one hundred people with this disease are known. The condition is particularly frequent in southern Norway, where more than half the cases are reported, but it is found in patients in other parts of Europe and the United States. It is named after Øystein Aagenæs, a Norwegian paediatrician. It is also called cholestasis-lymphedema syndrome (CLS). The first case of cholestasis usually improves spontaneously during preschool and early school age and returns at various intervals of two to six months. The severity of the disease varies in these patients, with some even experiencing complete liver failure. In these cases, liver transplantation is necessary. Untreated cholestasis is accompanied by jaundice, itching, malabsorption of fat and fat-soluble vitamins. This can lead to skeletal abnormalities and a higher susceptibility to bleeding. In early childhood and adolescence, lymphedema most often develops in all patients' lower limbs, but the upper limbs or chest are no exception. Untreated lymphedema can cause chronic tissue damage. Biochemical analysis A biochemical analysis revealed a significant increase of bilirubin concentration in patients in the first months of life, with a later decrease. Around the age of 3 or 4, the value was optimized to normal limits. In patients aged 10–20 years, serum concentrations of bilirubin, bile acids and transaminases (alanine aminotransferase, aspartate aminotransferase) reached normal or almost optimal values. Patients without observed liver cirrhosis compared to the control group had elevated levels of ALP (alkaline phosphatase) and GGT (gamma-glutamyl transferase). There was no significant difference in serum bile acid concentrations between patients and control group. However, test patients had lower values for total protein, CRP, albumin and creatinine. Moreover, the value for fibrinogen was higher in patients with Aagenaes syndrome. There was only a slight increase in mean cell hemoglobin (MCH) in terms of erythrocyte, leukocyte and platelet counts. Serum albumin concentrations decreased with age, but not in the control group. Treatment Although no cure for this disease has