Dominant psychiatric manifestations in Wilson's disease: a diagnostic and therapeutic challenge!

INTRODUCTION

Recognition of psychiatric manifestations of Wilson's disease (WD) has diagnostic and therapeutic implications.

OBJECTIVE

To describe the clinical features and psychopathology of patients with WD who had initial or predominant psychiatric manifestations.

PATIENT AND METHODS

Records of 15 patients with WD (M:F: 11:4), from a large cohort of 350 patients, with predominant psychiatric manifestations at onset were reviewed. Their initial diagnosis, demographic profile, family history, pre-morbid personality, clinical manifestations, treatment and outcome were recorded.

RESULTS

Their mean age at diagnosis was 19.8+/-5.8 years. Six patients were born to consanguineous parentage and two patients each had family history of WD and past history of psychiatric illness. Diagnosis of WD was suspected by detection of KF rings (all), observing sensitivity to neuroleptics (n=2), history of jaundice (n=2) and family history suggestive of WD (n=9). Psychiatric manifestations could be classified as affective disorder spectrum (n=11) and schizophreniform-illness (n=3). While the psychiatric symptoms improved in five patients with de-coppering therapy, seven patients needed symptomatic treatment as well. Three of the four patients who responded to de-coppering therapy were sensitive to neuroleptics. Long-term follow up of 10 patients revealed variable recovery.

CONCLUSIONS

Young patient with psychiatric manifestations with clues like history of jaundice, family history of neuropsychiatric manifestations and sensitivity to neuroleptics should be evaluated for WD to avoid delay in diagnosis and associated morbidity.

SIGNIFICANT OUTCOMES

The study reemphasizes the importance of behavioral manifestations in Wilson disease in terms of diagnosis and management difficulties.

LIMITATIONS

Retrospective nature of the study.