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A functional seizure case in Wilson's disease.

Lucas D'Andrea¹, Raphael Mosqueira¹, Alcenor C Miranda Filho¹

¹Department of Neuropsychiatry, Institute of Psychiatry, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.

Epilepsy & Behavior Reports

|May 7, 2025

Summary

Wilson's disease (WD), a copper metabolism disorder, can cause neurological and psychiatric symptoms. This case shows how functional seizures were misdiagnosed as epilepsy in a WD patient, highlighting diagnostic complexities.

Keywords:

Ceruloplasmin Copper Functional Seizure Functional neurological disorder Psychiatry Psychogenic Psychogenic non-epileptic seizure Wilson’s disease

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Area of Science:

Neuroscience
Genetics
Psychiatry

Background:

Wilson's disease (WD) is a rare genetic disorder of copper metabolism, leading to toxic copper accumulation in organs like the liver and brain.
Neuropsychiatric symptoms are common in WD, complicating diagnosis and management.
Functional seizures (FS) are characterized by episodes resembling seizures but without abnormal brain electrical activity.

Observation:

A 22-year-old woman with Wilson's disease presented with neurological symptoms and functional seizures.
Her functional seizures were misdiagnosed as epilepsy secondary to WD for nearly two years.
The patient had a history of childhood trauma and interpersonal difficulties, suggesting psychogenic contributions to her symptoms.

Findings:

This case illustrates the significant diagnostic challenges in differentiating functional seizures from epilepsy in patients with Wilson's disease.
The interplay between organic (WD) and psychogenic factors (trauma history) contributed to the misdiagnosis.
Comprehensive patient assessment is crucial for accurate diagnosis.

Implications:

Accurate diagnosis of functional seizures in WD patients requires careful consideration of both neurological and psychiatric factors.
Multidisciplinary care involving neurologists, psychiatrists, and therapists is essential for effective management of WD with neuropsychiatric manifestations.
Early and accurate diagnosis can prevent prolonged misdiagnosis and improve patient outcomes and quality of life.