Presenting symptoms and natural history of Wilson disease

The presenting symptoms of Wilson disease and its natural history as related to age are described based on 283 cases collected in Japan. The disease presented with a variety of signs and symptoms; the most frequent were in order of frequency jaundice, dysarthria, clumsiness, tremor, drooling, gait disturbance, malaise and arthralgia. The mean age at onset of the disease was 12.0 years. Hepatic and osteoarthral symptoms developed early and neurological symptoms late. Fifty-eight cases developed neurological symptoms only, 28 cases had hepatic symptoms only, and in 26 cases hepatic symptoms were followed by neurological symptoms. A higher mortality rate was observed in hepatic, hepato-haematological and hepato-renal cases mainly due to acute hepatic failure resulting in death only a few weeks after onset. Cases having only neurological symptoms showed a more favourable prognosis with a longer survival.