Wilson's disease in children: clinical and diagnostic features

Objective: To study the clinical and diagnostic laboratory features of Wilsons disease in children and adolescents. Design: A prospective cohort study. Place and Duration of study: The study included patients diagnosed as Wilson s disease at the Department of Pediatrics Allied Hospital, Punjab medical College, Faisalabad from May 1997 to June 2001. Patients and methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin (<20 mg/dl). In other forms and for family screening, 24 hours. Urinary copper (>100 mu gm) free serum copper (>10 mu gm/dl). In other forms and for family screening, 24 hours. Urinary copper (> 100 mu gm), free serum copper (>10 mu gm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41% with hepatic and 4% with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1%) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous marriage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin(<20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary copper excretion and free serum copper was noted in 79 % and 86 % of non neurologic type respectively. Liver biopsy revealed various grades of liver damage. Focal copper stores on rubeanic acid staining were seen in 2 out of 7 patients subjected to liver biopsy. Six (22%) patients died with in six months, 7(26%) were lost to follow-up and 14(52%) are being followed-up. Conclusion: Wilson's disease presents at an early age but at a late stage in our region Diagnosis can be made if it is suspected. Early diagnosis is essential for improving survival. Inter family marriages should be avoided to prevent disease. (author)