Introduction Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain and eyes. The disease can present with hepatic, neurological, hematological, psychiatric disturbances or a combination of these, in individuals ranging from three years to over fifty years of age. It is important to remember that the “classic triad” of liver disease, movement disorder and Kayser-Fleischer ring is quite uncommon and to establish the correct diagnosis of Wilson disease could be challenging.
Aim To expose different manifestations at the onset of the disease in childhood.
Methods We have studied chronologically the clinical features and the paraclinical findings in 5 children (3 being part of the same family). Three of them had liver disease (fulminant hepatic failure, recurrent jaundice, fatigue, anorexia, hepatosplenomegaly) or hemolytic anemia and the other two had neurological and psychiatrical manifestations.
Results In most of the cases the first signs are abdominal (hepatosplenomegaly, cronic hepatitis) and observed in early childhood. If the disease is left unobserved and untreated at teen age, neurological and psychiatrical manifestations become predominant.
Conclusions Wilson disease is an autosomal recessive genetic disease and it is important to investigate all members of the affected family. Clinical manifestations are different from person to person, even if they come from the same family. Despite the polymorphism of clinical signs and symptoms, the challenge is to establish the correct diagnosis as soon as possible and to institute the lifetime treatment with chelating agents.