[Wilson's disease. Clinical presentation, treatment and evolution in 21 cases]

Wilson's disease is characterized by neuropsychiatric symptoms with frequent extrapyramidal and intellectual presentations. They have an insidious evolution that leads to a late diagnosis and less therapeutic effectiveness in the advanced forms.

We report 21 cases of Wilson's disease with neurological complications, emphasizing clinical semiology, diagnostic means and problems of the therapeutics in our country.

The average age at the beginning of the disease was 17.6 years, with a female prevalence (8/13). The signs at first were mostly all neurological (71.4%), then psychiatric (19%) or hepatic (19%). The most common neurological signs were dystonia of members (81%), dysarthria (76%), tremors (76%) or disorders of motoricity (71.4%). Sometimes there were sialorrhea or disorders of the handwriting. The Kayser-Fleischer ring was present in 19 patients. Eighteen patients had clinical and/or biological hepatic involvement. The diagnosis was confirmed by biochemical examinations, which found a low rate of copper in blood, a sinking rate of ceruloplasmin and a very high rate of urinary copper. The cerebral computer tomography shows a cortical and/or subcortical atrophy (37%), and/or a low density of the central grey cores (35%). The treatment was based on D-penicillamine and/or zinc sulfate, according to the availability of the drugs. The evolution was favourable among 18 patients (85%) and not good in 42.8% of the cases. Six of the first patients had poor evolution after many years of follow-up. Finally, only 12 patients (57%) had a very good outcome. The family investigation made among 17 patients revealed 13 family cases. The only predictive factor of a poor evolution was the therapeutic noncompliance (P = 0.006).

The neurological presentations are traditional during the Wilson's disease, but are often ignored. We must suspect the disease in children when faced with disorders of handwriting or school failures and in the adult, when faced with neurological symptoms in a patient having a hepatic disease. We must not hesitate to consider it even given purely psychiatric signs, and we had better know to seek the neurological ones.