Wilson’s disease is a rare (1:30,000) autosomal recessive disorder of copper metabolism that is caused by mutations in the adenosine triphosphatase copper transporting beta (ATP7B) gene, located on chromosome 13. The reported percentage of patients with psychiatric symptoms as the presenting clinical feature is 10%-20%.

To present and discuss a rare case admitted in the First Psychotic Episode Inpatient Unit (UIPEP) with pleiomorphic psychotic symptoms and low serum copper and ceruloplasmin and high 24h urine copper.

The data was collected through patient and family interviews, as well as from his medical record. We searched Pubmed using MeSH terms: psychotic disorders AND Hepatolenticular Degeneration.

A twenty-two years old male, without known psychiatric history presented in the Emergency Department with a myriad of psychotic symptoms: motor stereotypes/mannerisms, paranoid delusions and auditory hallucinations. He was admitted in UIPEP, started low-dose antipsychotic medication with good response. As part of the implemented protocol, he did a battery of exams, including Brain CT-scan, EEG, ECG and blood and urine analysis, in which low serum copper and ceruloplasmin stood out, leveraging the suspicion of Wilson´s disease. Therefore, 24h urine copper was done, with 140 mcg/d (reference range < 40 mcg/d). Brain MRI was normal and no Kayser–Fleisher rings were seen by a consulting ophthalmologist.

Without proper treatment, Wilson’s disease is a progressive and fatal disease. Therefore, it’s of upmost importance to recognize the clinical signs that raise suspicion of this disorder, especially recent onset in young adult of miscellaneous psychotic symptoms with movement disorders.

No significant relationships.

Neuroimaging studies in Wilson’s disease (WD) have identified various alterations in white matter (WM) microstructural organization. However, it remains unclear whether these alterations are localized to specific regions of fiber tracts, and what diagnostic value they might have. The purpose of this study is to explore the spatial profile of WM abnormalities along defined fiber tracts in WD and its clinical relevance.

Ninety-nine patients with WD (62 men and 37 women) and 91 age- and sex-matched controls (59 men and 32 women) were recruited to take part in experiments of diffusion-weighted imaging with 64 gradient vectors. The data were calculated by FMRIB Software Library (FSL) software and Automated Fiber Quantification (AFQ) software. After registration, patient groups and normal groups were compared by Mann–Whitney U test analysis.

Compared with the controls, the patients with WD showed widespread fractional anisotropy reduction and mean diffusivity, radial diffusivity elevation of identified fiber tracts. Significant correlations between diffusion tensor imaging (DTI) parameters and the neurological Unified Wilson’s Disease Rating Scale (UWDRS-N), serum ceruloplasmin, and 24-h urinary copper excretion were found.

The present study has provided evidence that the metrics of DTI could be utilized as a potential biomarker of neuropathological symptoms in WD. Damage to the microstructure of callosum forceps and corticospinal tract may be involved in the pathophysiological process of neurological symptoms in WD patients, such as gait and balance disturbances, involuntary movements, dysphagia, and autonomic dysfunction.

Wilson’s Disease is a rare, autosomal recessive disorder related to disturbances of copper metabolism. Its clinical picture includes hepatic, neurologic, psychiatric, and systemic manifestations. Psychiatric symptoms are frequent over the course of this disease and can be found in up to a quarter of patients at presentation. Successful treatment for Wilson’s Disease can be achieved using anti-copper agents.

We aim to review the literature regarding the psychiatric manifestations of Wilson’s Disease. We also include brief considerations about their management.

We performed an updated review in the PubMed database using the terms “Wilson’s Disease” and “Psychiatric manifestations”. The included articles were selected by title and abstract.

Psychiatric manifestations, including psychosis, mood disorders, personality disorders and cognitive impairment are common in Wilson’s Disease and can be the initial symptoms of this condition. The diagnosis of Wilson’s Disease in people presenting with psychiatric symptoms heralds special considerations in psychopharmacology since this population has a higher risk of hepatic impairment, epilepsy, and extrapyramidal side effects.

Psychiatric symptoms are common in Wilson’s Disease and can be its presenting clinical features. Missing the diagnosis of Wilson’s Disease can stall an efficient treatment and lead to inadequate patient management.

The aim was to elucidate the personality traits of patients with treated Wilsonˈs disease (WD) in comparison to healthy volunteers.

Twenty-five WD patients, ten females and 15 males, with a mean age of 35.2 ± 8.3 years completed the Karolinska Scales of Personality (KSP), a self-report inventory comprising 15 separate scales. The results were compared to a control series comprising 200 men and 200 women drawn from the general population.

The patients with treated WD scored significantly lower than the healthy controls on aggressivity-hostility-related scales and the scale measuring Psychic Anxiety. Patients with predominantly hepatic symptoms had the lowest aggressivity-related scores and patients with predominantly neurological symptoms had the lowest Irritability, Guilt and Detachment scores and the highest Impulsiveness and Muscular Tension scores. Both groups scored low on the Somatic Anxiety scale.

The present results illustrate that patients with treated WD have significant deviations in personality traits, especially in aggressivity-hostility-related scales and Psychic Anxiety, compared to healthy controls when investigated by means of a self-report inventory, the KSP. The deviations were not related to age, age at onset or duration of the disease.

This study evaluated cardiac function using tissue Doppler echocardiography and assessed electrocardiographic findings in children diagnosed with Wilson’s disease.

Asymptomatic patients with a diagnosis of Wilson’s disease (n = 43) were compared to healthy controls (n = 37) that were age and gender matched.

The standard electrocardiographic and conventional echocardiographic examinations were similar in both groups. The left ventricular ejection fraction, shortening fraction, and diastolic function were not significantly different between the two groups. The Tei index for mitral lateral, mitral septal, tricuspid lateral, tricuspid septal, and inter-ventricular septum on tissue Doppler echocardiography was higher in the patient group, yet it did not reach statistical significance. Mitral lateral and septal systolic annular velocity values were significantly lower in the patient group when compared to the control group (p = 0.02 and 0.04, respectively). Also, mitral lateral and septal isovolumetric contraction time values were higher in the patient group (p = 0.04). Although the left ventricular values were not significantly different, relative left ventricular wall thickness was higher in the patient group when compared to the control group, and concentric remodelling in the left ventricle was found in 7 (16%) of 42 patients. QT interval (p = 0.02) and P-wave dispersion values (p = 0.04) were significantly higher in the patient group compared to the control group, and these tend to predict arrhythmias.

Our study based on the tissue Doppler echocardiography assessment indicated a subclinical systolic, rather than diastolic, dysfunction in the myocardium with increased QT interval and P-wave dispersion, despite the young age of the patients and short disease duration.