Abstract:

Objective To analyze the clinical presentation， pathogenesis， diagnosis， and treatment of one patient with Wilson’s disease （WD），who presenting the psychiatric symptoms as the first manifestation， and to enhance the clinician’s understandings of WD. Methods The clinical data of one WD patient with obvious neuropsychiatric manifestation were collected， and the clinical characteristics and methods of diagnosis and treatment were analyzed， and the literatures were reviewed. Results The patient， a 47-year-old male， first presented tremors 9 years ago， and was diagnosed as decompensated cirrhosis， likely caused by ethanol； eight years ago， the patient developed delusions and fear， and was diagnosed as schizophrenia. Upon admission， the patient had the facial features of chronic liver disease， clear consciousness， postural and resting tremors in his limbs， increased muscular tone， bradykinesia， and dysphasia. The examination results showed low ceruloplasmin and serum copper levels， and the level of 24 h urine copper was high， the Kayser-Fleischer （K-F） ring was positive， and two point mutations were identified in the 8th exon of ATP7B gene， leading to a diagnosis of WD based on the Leipzig scoring system （score of 8）. The further magnetic resonance imaging（MRI） examination results showed abnormal signals in bilateral basal ganglia， midbrain and pons， which was consistent with the WD presentation. After treated with trientine and zinc to chelate copper， the level of urine copper of the patient was initially increased and then gradually decreased. After three cycles of copper chelation therapy， the patient’s neurological symptoms was improved. The tremors of the patient was slightly improved，and the patient could have short verbal communication with the family members， and was able to walk for short distances， which demonstrated the effectiveness of the treatment. Conclusion For the WD patients with psychiatric disorders as the first manifestation and combined liver involvement， the clinicians should pay special attention to the differential diagnosis，complete ceruloplasmin，K-F ring ophthalmology， and head MRI examinations as early as possible， and if necessary， the gene detection and（or） liver biopsy should be completed. Once the patient was diagnosed as WD，the copper chelation treatment should be initiated as soon as possible to reduce the misdiagnosis or missed diagnosis.

Key words: Hepatolenticular degeneration, Mental disorder, Dysarthria, Dyskinesia, Case report