Late diagnosis of Wilson's disease more than 10 years after the initial neuropsychiatric symptoms in two cases

Introduction: Wilson's disease (WD) is a rare autosomal recessive disease caused by the toxic accumulation of copper due to ATP7B gene mutations. Neurological symptoms develop in about half of the patients. We present two cases of WD diagnosed only more than 10 years after onset of neurological/psychiatric symptoms. Case report: In the 25-year-old male patient thalamotomy was performed because of head and hand tremor thought to be consequence of a 3 year earlier car accident. The symptoms worsened, gait disorder and partial spastic hemiparesis developed. Head MRI was negative. WD was diagnosed only 12 years later. Low ceruloplasmin level (0.02 g/l), Kayser-Fleischer ring (KFR) positivity and the genetic testing (H1069Q homozygous mutations) confirmed the diagnosis. D-penicillamine treatment resulted in improvement of the tremor, speech disorder and writing skills but he did not become symptomless. 35-year-old male has been treated because of anxiety, depression and sleep disorder since his age of 18 years. He was treated with several psychiatric medicines without any beneficial effect. High transaminase levels were detected. However, the cause was not identified at that time. 14 years later neurological symptoms developed such as tremor, blurred speech, ataxia, dystonia, muscle spasm. He needed wheelchair because of the movement disorders. Wilson's disease has been diagnosed by KFR, the low ceruloplasmin level (0.03 g/l), the liver abnormalities and by genetic testing (H1069Q homozygous). Despite the long history of the psychiatric, neurological and liver symptoms, significant improvement was followed after the introduction of D-penicillamine. He does not need wheelchair anymore, liver tests returned to the normal. Conclusion: Although the vide variety of symptoms in Wilson's disease is well known, the diagnosis in the real life is often established very late after the initial symptoms. In our two presented cases more than ten years passed until the correct diagnosis. We call attention that WD should be considered not only in case of neurological, but that of psychiatric symptoms of unknown origin. The treatment could be effective even in advanced disease.