Late diagnosis of Wilson disease after anti-Parkinson treatment and attempt at suicide. A case of Wilson disease associated with ulcerative colitis

A 33-year-old sport manager, who suffered from ulcerative colitis since his age of 26 and who was treated because of Parkinson syndrome for three years, drank acid intending to commit suicide. His life was saved successfully. During interrogating the case history it turned out, that previously they found elevated transaminase level at his age of 13, but the cause was not discovered. He had to break off the competitive sport, because of movement disorder.

The liver function abnormality had already been observed at the time of onset of movement disorder, but the etiology was not known yet, they explained it by the alcohol consumption. The patient was sent to our clinic after the attempt at suicide. Based on the typical case history and clinical manifestation, the low ceruloplasmin level and the Kayser-Fleischer ring positivity the diagnosis of Wilson disease (WD) could be established, which was confirmed by the genetic testing (H1069Q homozygous).

After having begun the treatment by D-penicillamin his health started to improve gradually. After one year the liver function tests were normal, the neurological symptoms improved a lot and he was stabilized psychologically. He returned to work, get married and they had a son, who merely carries on one of his alleles the most frequent mutation in Hungary of H1069Q.

Further interest of this case is the association of the ulcerative colitis and the liver disease. The zinc sulphate therapy which is a secondhand treatment in WD can be advantageous in both diseases. However, in our case it proved to be insufficient.

The emotional instability associated with WD may result in suicide. We should think of WD in the background of every hepatologic disease with undefined origin. In our case the time frame from the first symptoms to the diagnosis was more than 20 years. Only one case report has been published about the association of WD and ulcerative colitis, yet. Before the intention to have a child the spouse's genetic screening is necessary.