Background and aims Wilson’s disease (WD) may have a polimorphic clinical picture and positive diagnosis can sometimes be difficult. The study aimed to analyse the clinical and laboratory characteristics of children with WD, diagnosed in the “Grigore Alexandrescu” Children’s Hospital, Bucharest.

Methods The study included 23 patients diagnosed with WD between 1995 and 2013. From the medical records we extracted: age, sex, family history, clinical manifestations and laboratory parameters at diagnosis.

Results The mean age at diagnosis was 12.1 years. Sex ratio was male/female = 2.1/1. Eight patients had family history of WD. The frequency of clinical signs was: hepatomegaly (47.8%), ascites (22%), jaundice (22%), splenomegaly (22%), esophageal varices (15%). Neurological manifestations were encountered in 4 cases. Children aged 10–14 years presented the largest number of clinical and laboratory abnormal findings. Urinary excretion of cooper was increased in 22 patients. Elevated transaminases was a common finding. Serum ceruloplasmin was low in 74%. Haematological abnormalities were: thrombocytopenia (26%), leucopenia (4%). Hepatic steatosis was found in 56%, fibrosis in 18% and signs of portal hypertension in 11%. Liver biopsy was performed in 8 cases, 6 presenting vacuolar lesions. Genetic testing was performed in 6 patients, 4 had heterozygote exon 8 mutation.

Conclusions WD is sometimes difficult to diagnose. Symptoms are more frequent in elder children and are dominated by liver disease with moderate cytolysis syndrome without liver failure; rarely neurological signs are associated. Family screening is extremely useful and allows precocious diagnosis in asymptomatic patients with early therapy initiation.