Abstract

ABSTRACT:
BACKGROUND:
Wilson’s disease (WD) is rare but curable hereditary metabolic disease presents in childhood in different ways which make the diagnosis difficult and delayed.
OBJECTIVE:
To evaluate all cases of WD, modes of presentations, available diagnostic methods, treatment and follow up in a sample of Iraqi children.
PATIENTS AND METHODS:
Clinical presentations and management of 24 patients with WD were studied after the exclusion of other chronic liver diseases by thorough investigation. Low ceruloplasmin level and high copper excretion in urine pre and post challenge with penicillamine, in addition to the presence of Kayser Fleischer rings were the main stay of the diagnosis. The diversity of the results with the response to treatment and side effects of drugs used were registered over 3 years period in the GIT & Hepatology unit and consultation clinic at the Children Welfare Teaching Hospital, Medical city, Baghdad in the period from the 1st of May 2003 till the 1st of may 2006.
RESULTS:
From the twenty four patients with WD included in the study, we had 17 patients (70.8%) with hepatic manifestations (4 with acute hepatitis, 3 with fulminant hepatic failure and 10 as chronic liver diseases). Only two patients (8.3%) had neurological symptoms. One patient had hepatic manifestation + evidence of hemolysis (4.1%) and 4 (16.7%) asymptomatic siblings. The mean age of presentation was less in hepatic than the neurologic presentation (7.5 and 9.2 years respectively). The time interval between the symptoms and the diagnosis was more in the neurological than hepatic cases (95 vs. 42 days). Low ceruloplasmin found in 70.1% & Kayser-Fleischer ring present in 47.1% of hepatic cases and in all neurological cases. Family history was positive in 3 patients of the index cases. On follow up after treatment one child had bone marrow depression and two patients had thrombocytopenia. One patient died (4.2%) with fulminant hepatic failure, ascites and encephalopathy.
CONCLUSION:
Acute hepatitis, chronic liver affection, fulminant hepatic encephalopathy acute hemolytic anemia may be the presentation of Wilson disease in children. They also may exhibit a neurological manifestation as tremor and ataxia. At least two of the three diagnostic criterion plus index of suspicion, family history of affected sibling or death in the family of a jaundiced child raises the possibility of WD after exclusion of other chronic liver diseases by investigations.